O55176 · PJA1_MOUSE
- ProteinE3 ubiquitin-protein ligase Praja-1
- GenePja1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids578 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3554911189 | 11 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000086.8:g.98511876C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511876C>T Locations: - p.Arg11Lys (Ensembl:ENSMUST00000113792) - c.32G>A (Ensembl:ENSMUST00000113792) - p.Arg11Lys (Ensembl:ENSMUST00000036354) - c.32G>A (Ensembl:ENSMUST00000036354) - p.Arg11Lys (Ensembl:ENSMUST00000167246) - c.32G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3554655565 | 72 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000086.8:g.98511693C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511693C>T Locations: - p.Arg72Gln (Ensembl:ENSMUST00000113792) - c.215G>A (Ensembl:ENSMUST00000113792) - p.Arg72Gln (Ensembl:ENSMUST00000036354) - c.215G>A (Ensembl:ENSMUST00000036354) - p.Arg72Gln (Ensembl:ENSMUST00000167246) - c.215G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411632283 | 74 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98511687C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511687C>A Locations: - p.Gly74Val (Ensembl:ENSMUST00000113792) - c.221G>T (Ensembl:ENSMUST00000113792) - p.Gly74Val (Ensembl:ENSMUST00000036354) - c.221G>T (Ensembl:ENSMUST00000036354) - p.Gly74Val (Ensembl:ENSMUST00000167246) - c.221G>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411377978 | 75 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000086.8:g.98511685A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511685A>C Locations: - p.Leu75Val (Ensembl:ENSMUST00000113792) - c.223T>G (Ensembl:ENSMUST00000113792) - p.Leu75Val (Ensembl:ENSMUST00000036354) - c.223T>G (Ensembl:ENSMUST00000036354) - p.Leu75Val (Ensembl:ENSMUST00000167246) - c.223T>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3554661503 | 83 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.98511661C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511661C>T Locations: - p.Val83Ile (Ensembl:ENSMUST00000113792) - c.247G>A (Ensembl:ENSMUST00000113792) - p.Val83Ile (Ensembl:ENSMUST00000036354) - c.247G>A (Ensembl:ENSMUST00000036354) - p.Val83Ile (Ensembl:ENSMUST00000167246) - c.247G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3410451580 | 90 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000086.8:g.98511639T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511639T>A Locations: - p.Glu90Val (Ensembl:ENSMUST00000113792) - c.269A>T (Ensembl:ENSMUST00000113792) - p.Glu90Val (Ensembl:ENSMUST00000036354) - c.269A>T (Ensembl:ENSMUST00000036354) - p.Glu90Val (Ensembl:ENSMUST00000167246) - c.269A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411861897 | 116 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000086.8:g.98511562C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511562C>T Locations: - p.Ala116Thr (Ensembl:ENSMUST00000113792) - c.346G>A (Ensembl:ENSMUST00000113792) - p.Ala116Thr (Ensembl:ENSMUST00000036354) - c.346G>A (Ensembl:ENSMUST00000036354) - p.Ala116Thr (Ensembl:ENSMUST00000167246) - c.346G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3555104081 | 120 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.98511550G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511550G>A Locations: - p.Arg120Cys (Ensembl:ENSMUST00000113792) - c.358C>T (Ensembl:ENSMUST00000113792) - p.Arg120Cys (Ensembl:ENSMUST00000036354) - c.358C>T (Ensembl:ENSMUST00000036354) - p.Arg120Cys (Ensembl:ENSMUST00000167246) - c.358C>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3554911242 | 144 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.98511477G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511477G>T Locations: - p.Ser144Ter (Ensembl:ENSMUST00000113792) - c.431C>A (Ensembl:ENSMUST00000113792) - p.Ser144Ter (Ensembl:ENSMUST00000036354) - c.431C>A (Ensembl:ENSMUST00000036354) - p.Ser144Ter (Ensembl:ENSMUST00000167246) - c.431C>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3554874682 | 155 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000086.8:g.98511444C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511444C>A Locations: - p.Gly155Val (Ensembl:ENSMUST00000113792) - c.464G>T (Ensembl:ENSMUST00000113792) - p.Gly155Val (Ensembl:ENSMUST00000036354) - c.464G>T (Ensembl:ENSMUST00000036354) - p.Gly155Val (Ensembl:ENSMUST00000167246) - c.464G>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3554943372 | 157 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000086.8:g.98511438G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511438G>A Locations: - p.Ser157Leu (Ensembl:ENSMUST00000113792) - c.470C>T (Ensembl:ENSMUST00000113792) - p.Ser157Leu (Ensembl:ENSMUST00000036354) - c.470C>T (Ensembl:ENSMUST00000036354) - p.Ser157Leu (Ensembl:ENSMUST00000167246) - c.470C>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411259204 | 161 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000086.8:g.98511427T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511427T>G Locations: - p.Ile161Leu (Ensembl:ENSMUST00000113792) - c.481A>C (Ensembl:ENSMUST00000113792) - p.Ile161Leu (Ensembl:ENSMUST00000036354) - c.481A>C (Ensembl:ENSMUST00000036354) - p.Ile161Leu (Ensembl:ENSMUST00000167246) - c.481A>C (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3410881782 | 163 | S>A | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.98511422_98511423insTGGCTCCTCGGCCTCTCAGATTTCTTCTGCT Codon: TCT/TCAGCAGAAGAAATCTGAGAGGCCGAGGAGCCAT Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511422_98511423insTGGCTCCTCGGCCTCTCAGATTTCTTCTGCT Locations: - p.Ser163AlafsTer5 (Ensembl:ENSMUST00000113792) - c.485_486insAGCAGAAGAAATCTGAGAGGCCGAGGAGCCA (Ensembl:ENSMUST00000113792) - p.Ser163AlafsTer5 (Ensembl:ENSMUST00000036354) - c.485_486insAGCAGAAGAAATCTGAGAGGCCGAGGAGCCA (Ensembl:ENSMUST00000036354) - p.Ser163AlafsTer5 (Ensembl:ENSMUST00000167246) - c.485_486insAGCAGAAGAAATCTGAGAGGCCGAGGAGCCA (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs16797834 | 193 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000086.8:g.98511330C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511330C>T Locations: - p.Ser193Asn (Ensembl:ENSMUST00000113792) - c.578G>A (Ensembl:ENSMUST00000113792) - p.Ser193Asn (Ensembl:ENSMUST00000036354) - c.578G>A (Ensembl:ENSMUST00000036354) - p.Ser193Asn (Ensembl:ENSMUST00000167246) - c.578G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389572793 | 205 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000086.8:g.98511295C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511295C>T Locations: - p.Ala205Thr (Ensembl:ENSMUST00000113792) - c.613G>A (Ensembl:ENSMUST00000113792) - p.Ala205Thr (Ensembl:ENSMUST00000036354) - c.613G>A (Ensembl:ENSMUST00000036354) - p.Ala205Thr (Ensembl:ENSMUST00000167246) - c.613G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389570131 | 217 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000086.8:g.98511259C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511259C>T Locations: - p.Val217Met (Ensembl:ENSMUST00000113792) - c.649G>A (Ensembl:ENSMUST00000113792) - p.Val217Met (Ensembl:ENSMUST00000036354) - c.649G>A (Ensembl:ENSMUST00000036354) - p.Val217Met (Ensembl:ENSMUST00000167246) - c.649G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389583885 | 222 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000086.8:g.98511243C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511243C>T Locations: - p.Cys222Tyr (Ensembl:ENSMUST00000113792) - c.665G>A (Ensembl:ENSMUST00000113792) - p.Cys222Tyr (Ensembl:ENSMUST00000036354) - c.665G>A (Ensembl:ENSMUST00000036354) - p.Cys222Tyr (Ensembl:ENSMUST00000167246) - c.665G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3555104071 | 239 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000086.8:g.98511192T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511192T>A Locations: - p.His239Leu (Ensembl:ENSMUST00000113792) - c.716A>T (Ensembl:ENSMUST00000113792) - p.His239Leu (Ensembl:ENSMUST00000036354) - c.716A>T (Ensembl:ENSMUST00000036354) - p.His239Leu (Ensembl:ENSMUST00000167246) - c.716A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389526846 | 239 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000086.8:g.98511191G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511191G>C Locations: - p.His239Gln (Ensembl:ENSMUST00000113792) - c.717C>G (Ensembl:ENSMUST00000113792) - p.His239Gln (Ensembl:ENSMUST00000036354) - c.717C>G (Ensembl:ENSMUST00000036354) - p.His239Gln (Ensembl:ENSMUST00000167246) - c.717C>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389577467 | 249 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000086.8:g.98511161A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511161A>T Locations: - p.Asp249Glu (Ensembl:ENSMUST00000113792) - c.747T>A (Ensembl:ENSMUST00000113792) - p.Asp249Glu (Ensembl:ENSMUST00000036354) - c.747T>A (Ensembl:ENSMUST00000036354) - p.Asp249Glu (Ensembl:ENSMUST00000167246) - c.747T>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389561303 | 249 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.98511162T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511162T>A Locations: - p.Asp249Val (Ensembl:ENSMUST00000113792) - c.746A>T (Ensembl:ENSMUST00000113792) - p.Asp249Val (Ensembl:ENSMUST00000036354) - c.746A>T (Ensembl:ENSMUST00000036354) - p.Asp249Val (Ensembl:ENSMUST00000167246) - c.746A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389569255 | 255 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000086.8:g.98511144G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511144G>A Locations: - p.Ala255Val (Ensembl:ENSMUST00000113792) - c.764C>T (Ensembl:ENSMUST00000113792) - p.Ala255Val (Ensembl:ENSMUST00000036354) - c.764C>T (Ensembl:ENSMUST00000036354) - p.Ala255Val (Ensembl:ENSMUST00000167246) - c.764C>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389569207 | 264 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000086.8:g.98511118C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511118C>T Locations: - p.Gly264Ser (Ensembl:ENSMUST00000113792) - c.790G>A (Ensembl:ENSMUST00000113792) - p.Gly264Ser (Ensembl:ENSMUST00000036354) - c.790G>A (Ensembl:ENSMUST00000036354) - p.Gly264Ser (Ensembl:ENSMUST00000167246) - c.790G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389572779 | 268 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000086.8:g.98511105C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511105C>T Locations: - p.Ser268Asn (Ensembl:ENSMUST00000113792) - c.803G>A (Ensembl:ENSMUST00000113792) - p.Ser268Asn (Ensembl:ENSMUST00000036354) - c.803G>A (Ensembl:ENSMUST00000036354) - p.Ser268Asn (Ensembl:ENSMUST00000167246) - c.803G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389561343 | 279 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000086.8:g.98511072T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511072T>C Locations: - p.Asp279Gly (Ensembl:ENSMUST00000113792) - c.836A>G (Ensembl:ENSMUST00000113792) - p.Asp279Gly (Ensembl:ENSMUST00000036354) - c.836A>G (Ensembl:ENSMUST00000036354) - p.Asp279Gly (Ensembl:ENSMUST00000167246) - c.836A>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389569205 | 287 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000086.8:g.98511048G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511048G>A Locations: - p.Ala287Val (Ensembl:ENSMUST00000113792) - c.860C>T (Ensembl:ENSMUST00000113792) - p.Ala287Val (Ensembl:ENSMUST00000036354) - c.860C>T (Ensembl:ENSMUST00000036354) - p.Ala287Val (Ensembl:ENSMUST00000167246) - c.860C>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs29084737 | 294 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000086.8:g.98511027C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511027C>T Locations: - p.Arg294Gln (Ensembl:ENSMUST00000113792) - c.881G>A (Ensembl:ENSMUST00000113792) - p.Arg294Gln (Ensembl:ENSMUST00000036354) - c.881G>A (Ensembl:ENSMUST00000036354) - p.Arg294Gln (Ensembl:ENSMUST00000167246) - c.881G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3554785708 | 295 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.98511025G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511025G>A Locations: - p.Arg295Ter (Ensembl:ENSMUST00000113792) - c.883C>T (Ensembl:ENSMUST00000113792) - p.Arg295Ter (Ensembl:ENSMUST00000036354) - c.883C>T (Ensembl:ENSMUST00000036354) - p.Arg295Ter (Ensembl:ENSMUST00000167246) - c.883C>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389580193 | 299 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000086.8:g.98511012T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98511012T>A Locations: - p.Asp299Val (Ensembl:ENSMUST00000113792) - c.896A>T (Ensembl:ENSMUST00000113792) - p.Asp299Val (Ensembl:ENSMUST00000036354) - c.896A>T (Ensembl:ENSMUST00000036354) - p.Asp299Val (Ensembl:ENSMUST00000167246) - c.896A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs8278076 | 328 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000086.8:g.98510926G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510926G>T Locations: - p.Arg328Ser (Ensembl:ENSMUST00000113792) - c.982C>A (Ensembl:ENSMUST00000113792) - p.Arg328Ser (Ensembl:ENSMUST00000036354) - c.982C>A (Ensembl:ENSMUST00000036354) - p.Arg328Ser (Ensembl:ENSMUST00000167246) - c.982C>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs8278077 | 332 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000086.8:g.98510914G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510914G>C Locations: - p.Arg332Gly (Ensembl:ENSMUST00000113792) - c.994C>G (Ensembl:ENSMUST00000113792) - p.Arg332Gly (Ensembl:ENSMUST00000036354) - c.994C>G (Ensembl:ENSMUST00000036354) - p.Arg332Gly (Ensembl:ENSMUST00000167246) - c.994C>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389580206 | 335 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000086.8:g.98510903C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510903C>A Locations: - p.Glu335Asp (Ensembl:ENSMUST00000113792) - c.1005G>T (Ensembl:ENSMUST00000113792) - p.Glu335Asp (Ensembl:ENSMUST00000036354) - c.1005G>T (Ensembl:ENSMUST00000036354) - p.Glu335Asp (Ensembl:ENSMUST00000167246) - c.1005G>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389548673 | 337 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000086.8:g.98510899G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510899G>C Locations: - p.Pro337Ala (Ensembl:ENSMUST00000113792) - c.1009C>G (Ensembl:ENSMUST00000113792) - p.Pro337Ala (Ensembl:ENSMUST00000036354) - c.1009C>G (Ensembl:ENSMUST00000036354) - p.Pro337Ala (Ensembl:ENSMUST00000167246) - c.1009C>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411861840 | 340 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510889G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510889G>A Locations: - p.Ser340Phe (Ensembl:ENSMUST00000113792) - c.1019C>T (Ensembl:ENSMUST00000113792) - p.Ser340Phe (Ensembl:ENSMUST00000036354) - c.1019C>T (Ensembl:ENSMUST00000036354) - p.Ser340Phe (Ensembl:ENSMUST00000167246) - c.1019C>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs8278078 | 359 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000086.8:g.98510833C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510833C>G Locations: - p.Ala359Pro (Ensembl:ENSMUST00000113792) - c.1075G>C (Ensembl:ENSMUST00000113792) - p.Ala359Pro (Ensembl:ENSMUST00000036354) - c.1075G>C (Ensembl:ENSMUST00000036354) - p.Ala359Pro (Ensembl:ENSMUST00000167246) - c.1075G>C (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411632281 | 366 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.98510811C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510811C>A Locations: - p.Ser366Ile (Ensembl:ENSMUST00000113792) - c.1097G>T (Ensembl:ENSMUST00000113792) - p.Ser366Ile (Ensembl:ENSMUST00000036354) - c.1097G>T (Ensembl:ENSMUST00000036354) - p.Ser366Ile (Ensembl:ENSMUST00000167246) - c.1097G>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411259252 | 368 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000086.8:g.98510805C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510805C>G Locations: - p.Gly368Ala (Ensembl:ENSMUST00000113792) - c.1103G>C (Ensembl:ENSMUST00000113792) - p.Gly368Ala (Ensembl:ENSMUST00000036354) - c.1103G>C (Ensembl:ENSMUST00000036354) - p.Gly368Ala (Ensembl:ENSMUST00000167246) - c.1103G>C (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411378013 | 370 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000086.8:g.98510799T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510799T>G Locations: - p.Asn370Thr (Ensembl:ENSMUST00000113792) - c.1109A>C (Ensembl:ENSMUST00000113792) - p.Asn370Thr (Ensembl:ENSMUST00000036354) - c.1109A>C (Ensembl:ENSMUST00000036354) - p.Asn370Thr (Ensembl:ENSMUST00000167246) - c.1109A>C (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389548683 | 375 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000086.8:g.98510785G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510785G>A Locations: - p.Pro375Ser (Ensembl:ENSMUST00000113792) - c.1123C>T (Ensembl:ENSMUST00000113792) - p.Pro375Ser (Ensembl:ENSMUST00000036354) - c.1123C>T (Ensembl:ENSMUST00000036354) - p.Pro375Ser (Ensembl:ENSMUST00000167246) - c.1123C>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389526855 | 376 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000086.8:g.98510781T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510781T>C Locations: - p.Glu376Gly (Ensembl:ENSMUST00000113792) - c.1127A>G (Ensembl:ENSMUST00000113792) - p.Glu376Gly (Ensembl:ENSMUST00000036354) - c.1127A>G (Ensembl:ENSMUST00000036354) - p.Glu376Gly (Ensembl:ENSMUST00000167246) - c.1127A>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389580185 | 397 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510718G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510718G>T Locations: - p.Pro397His (Ensembl:ENSMUST00000113792) - c.1190C>A (Ensembl:ENSMUST00000113792) - p.Pro397His (Ensembl:ENSMUST00000036354) - c.1190C>A (Ensembl:ENSMUST00000036354) - p.Pro397His (Ensembl:ENSMUST00000167246) - c.1190C>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389526813 | 408 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510686T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510686T>C Locations: - p.Ser408Gly (Ensembl:ENSMUST00000113792) - c.1222A>G (Ensembl:ENSMUST00000113792) - p.Ser408Gly (Ensembl:ENSMUST00000036354) - c.1222A>G (Ensembl:ENSMUST00000036354) - p.Ser408Gly (Ensembl:ENSMUST00000167246) - c.1222A>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs8278079 | 418 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000086.8:g.98510656G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510656G>A Locations: - p.Leu418Phe (Ensembl:ENSMUST00000113792) - c.1252C>T (Ensembl:ENSMUST00000113792) - p.Leu418Phe (Ensembl:ENSMUST00000036354) - c.1252C>T (Ensembl:ENSMUST00000036354) - p.Leu418Phe (Ensembl:ENSMUST00000167246) - c.1252C>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3410451572 | 430 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510619T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510619T>A Locations: - p.Asn430Ile (Ensembl:ENSMUST00000113792) - c.1289A>T (Ensembl:ENSMUST00000113792) - p.Asn430Ile (Ensembl:ENSMUST00000036354) - c.1289A>T (Ensembl:ENSMUST00000036354) - p.Asn430Ile (Ensembl:ENSMUST00000167246) - c.1289A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411259254 | 431 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510616T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510616T>A Locations: - p.Asn431Ile (Ensembl:ENSMUST00000113792) - c.1292A>T (Ensembl:ENSMUST00000113792) - p.Asn431Ile (Ensembl:ENSMUST00000036354) - c.1292A>T (Ensembl:ENSMUST00000036354) - p.Asn431Ile (Ensembl:ENSMUST00000167246) - c.1292A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3409844494 | 431 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000086.8:g.98510617T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510617T>A Locations: - p.Asn431Tyr (Ensembl:ENSMUST00000113792) - c.1291A>T (Ensembl:ENSMUST00000113792) - p.Asn431Tyr (Ensembl:ENSMUST00000036354) - c.1291A>T (Ensembl:ENSMUST00000036354) - p.Asn431Tyr (Ensembl:ENSMUST00000167246) - c.1291A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389548663 | 432 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510613A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510613A>T Locations: - p.Leu432Gln (Ensembl:ENSMUST00000113792) - c.1295T>A (Ensembl:ENSMUST00000113792) - p.Leu432Gln (Ensembl:ENSMUST00000036354) - c.1295T>A (Ensembl:ENSMUST00000036354) - p.Leu432Gln (Ensembl:ENSMUST00000167246) - c.1295T>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389548663 | 432 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510613A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510613A>C Locations: - p.Leu432Arg (Ensembl:ENSMUST00000113792) - c.1295T>G (Ensembl:ENSMUST00000113792) - p.Leu432Arg (Ensembl:ENSMUST00000036354) - c.1295T>G (Ensembl:ENSMUST00000036354) - p.Leu432Arg (Ensembl:ENSMUST00000167246) - c.1295T>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411378007 | 433 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510609T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510609T>A Locations: - p.Glu433Asp (Ensembl:ENSMUST00000113792) - c.1299A>T (Ensembl:ENSMUST00000113792) - p.Glu433Asp (Ensembl:ENSMUST00000036354) - c.1299A>T (Ensembl:ENSMUST00000036354) - p.Glu433Asp (Ensembl:ENSMUST00000167246) - c.1299A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3409956553 | 433 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510610T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510610T>A Locations: - p.Glu433Val (Ensembl:ENSMUST00000113792) - c.1298A>T (Ensembl:ENSMUST00000113792) - p.Glu433Val (Ensembl:ENSMUST00000036354) - c.1298A>T (Ensembl:ENSMUST00000036354) - p.Glu433Val (Ensembl:ENSMUST00000167246) - c.1298A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411528318 | 434 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510607T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510607T>A Locations: - p.Asp434Val (Ensembl:ENSMUST00000113792) - c.1301A>T (Ensembl:ENSMUST00000113792) - p.Asp434Val (Ensembl:ENSMUST00000036354) - c.1301A>T (Ensembl:ENSMUST00000036354) - p.Asp434Val (Ensembl:ENSMUST00000167246) - c.1301A>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411259211 | 438 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000086.8:g.98510596C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510596C>T Locations: - p.Val438Met (Ensembl:ENSMUST00000113792) - c.1312G>A (Ensembl:ENSMUST00000113792) - p.Val438Met (Ensembl:ENSMUST00000036354) - c.1312G>A (Ensembl:ENSMUST00000036354) - p.Val438Met (Ensembl:ENSMUST00000167246) - c.1312G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411468874 | 442 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510584G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510584G>T Locations: - p.Leu442Ile (Ensembl:ENSMUST00000113792) - c.1324C>A (Ensembl:ENSMUST00000113792) - p.Leu442Ile (Ensembl:ENSMUST00000036354) - c.1324C>A (Ensembl:ENSMUST00000036354) - p.Leu442Ile (Ensembl:ENSMUST00000167246) - c.1324C>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411142660 | 443 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510580T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510580T>G Locations: - p.Glu443Ala (Ensembl:ENSMUST00000113792) - c.1328A>C (Ensembl:ENSMUST00000113792) - p.Glu443Ala (Ensembl:ENSMUST00000036354) - c.1328A>C (Ensembl:ENSMUST00000036354) - p.Glu443Ala (Ensembl:ENSMUST00000167246) - c.1328A>C (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3410881852 | 443 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510581C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510581C>G Locations: - p.Glu443Gln (Ensembl:ENSMUST00000113792) - c.1327G>C (Ensembl:ENSMUST00000113792) - p.Glu443Gln (Ensembl:ENSMUST00000036354) - c.1327G>C (Ensembl:ENSMUST00000036354) - p.Glu443Gln (Ensembl:ENSMUST00000167246) - c.1327G>C (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389572758 | 465 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000086.8:g.98510515C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510515C>T Locations: - p.Val465Met (Ensembl:ENSMUST00000113792) - c.1393G>A (Ensembl:ENSMUST00000113792) - p.Val465Met (Ensembl:ENSMUST00000036354) - c.1393G>A (Ensembl:ENSMUST00000036354) - p.Val465Met (Ensembl:ENSMUST00000167246) - c.1393G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3554874702 | 507 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000086.8:g.98510389C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510389C>T Locations: - p.Glu507Lys (Ensembl:ENSMUST00000113792) - c.1519G>A (Ensembl:ENSMUST00000113792) - p.Glu507Lys (Ensembl:ENSMUST00000036354) - c.1519G>A (Ensembl:ENSMUST00000036354) - p.Glu507Lys (Ensembl:ENSMUST00000167246) - c.1519G>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3411142684 | 521 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.98510346T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510346T>C Locations: - p.His521Arg (Ensembl:ENSMUST00000113792) - c.1562A>G (Ensembl:ENSMUST00000113792) - p.His521Arg (Ensembl:ENSMUST00000036354) - c.1562A>G (Ensembl:ENSMUST00000036354) - p.His521Arg (Ensembl:ENSMUST00000167246) - c.1562A>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389570158 | 540 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.98510289C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510289C>A Locations: - p.Gly540Val (Ensembl:ENSMUST00000113792) - c.1619G>T (Ensembl:ENSMUST00000113792) - p.Gly540Val (Ensembl:ENSMUST00000036354) - c.1619G>T (Ensembl:ENSMUST00000036354) - p.Gly540Val (Ensembl:ENSMUST00000167246) - c.1619G>T (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389477408 | 550 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510259T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510259T>C Locations: - p.His550Arg (Ensembl:ENSMUST00000113792) - c.1649A>G (Ensembl:ENSMUST00000113792) - p.His550Arg (Ensembl:ENSMUST00000036354) - c.1649A>G (Ensembl:ENSMUST00000036354) - p.His550Arg (Ensembl:ENSMUST00000167246) - c.1649A>G (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389569281 | 560 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510228C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510228C>G Locations: - p.Trp560Cys (Ensembl:ENSMUST00000113792) - c.1680G>C (Ensembl:ENSMUST00000113792) - p.Trp560Cys (Ensembl:ENSMUST00000036354) - c.1680G>C (Ensembl:ENSMUST00000036354) - p.Trp560Cys (Ensembl:ENSMUST00000167246) - c.1680G>C (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389526842 | 564 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510218A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510218A>G Locations: - p.Ser564Pro (Ensembl:ENSMUST00000113792) - c.1690T>C (Ensembl:ENSMUST00000113792) - p.Ser564Pro (Ensembl:ENSMUST00000036354) - c.1690T>C (Ensembl:ENSMUST00000036354) - p.Ser564Pro (Ensembl:ENSMUST00000167246) - c.1690T>C (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3554874749 | 568 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.98510205G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510205G>T Locations: - p.Pro568Gln (Ensembl:ENSMUST00000113792) - c.1703C>A (Ensembl:ENSMUST00000113792) - p.Pro568Gln (Ensembl:ENSMUST00000036354) - c.1703C>A (Ensembl:ENSMUST00000036354) - p.Pro568Gln (Ensembl:ENSMUST00000167246) - c.1703C>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: | |||||||
rs3389569276 | 570 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.98510198G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.98510198G>T Locations: - p.Cys570Ter (Ensembl:ENSMUST00000113792) - c.1710C>A (Ensembl:ENSMUST00000113792) - p.Cys570Ter (Ensembl:ENSMUST00000036354) - c.1710C>A (Ensembl:ENSMUST00000036354) - p.Cys570Ter (Ensembl:ENSMUST00000167246) - c.1710C>A (Ensembl:ENSMUST00000167246) Source type: large scale study Cross-references: |