Q9BU27 · Q9BU27_HUMAN
- ProteinFAM3 metabolism regulating signaling molecule A
- GeneFAM3A
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs782017805 | 8 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.154512928G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512928G>A Locations: - p.Arg8Cys (Ensembl:ENST00000421517) - c.22C>T (Ensembl:ENST00000421517) - p.Arg8Cys (Ensembl:ENST00000449971) - c.22C>T (Ensembl:ENST00000449971) - p.Arg8Cys (Ensembl:ENST00000621967) - c.22C>T (Ensembl:ENST00000621967) - p.Arg8Cys (Ensembl:ENST00000434658) - c.22C>T (Ensembl:ENST00000434658) Source type: large scale study | |||||||
COSV59195141 rs782386917 | 8 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000023.11:g.154512927C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512927C>T Locations: - p.Arg8His (Ensembl:ENST00000434658) - c.23G>A (Ensembl:ENST00000434658) - p.Arg8His (Ensembl:ENST00000621967) - c.23G>A (Ensembl:ENST00000621967) - p.Arg8His (Ensembl:ENST00000421517) - c.23G>A (Ensembl:ENST00000421517) - p.Arg8His (Ensembl:ENST00000449971) - c.23G>A (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
rs1291901003 | 9 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512924A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512924A>G Locations: - p.Ile9Thr (Ensembl:ENST00000449971) - c.26T>C (Ensembl:ENST00000449971) - p.Ile9Thr (Ensembl:ENST00000421517) - c.26T>C (Ensembl:ENST00000421517) - p.Ile9Thr (Ensembl:ENST00000434658) - c.26T>C (Ensembl:ENST00000434658) - p.Ile9Thr (Ensembl:ENST00000621967) - c.26T>C (Ensembl:ENST00000621967) Source type: large scale study Cross-references: | |||||||
rs2069974688 | 9 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.154512925T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512925T>C Locations: - p.Ile9Val (Ensembl:ENST00000621967) - c.25A>G (Ensembl:ENST00000621967) - p.Ile9Val (Ensembl:ENST00000434658) - c.25A>G (Ensembl:ENST00000434658) - p.Ile9Val (Ensembl:ENST00000449971) - c.25A>G (Ensembl:ENST00000449971) - p.Ile9Val (Ensembl:ENST00000421517) - c.25A>G (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs782236332 | 11 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.154512919C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512919C>T Locations: - p.Val11Ile (Ensembl:ENST00000434658) - c.31G>A (Ensembl:ENST00000434658) - p.Val11Ile (Ensembl:ENST00000621967) - c.31G>A (Ensembl:ENST00000621967) - p.Val11Ile (Ensembl:ENST00000421517) - c.31G>A (Ensembl:ENST00000421517) - p.Val11Ile (Ensembl:ENST00000449971) - c.31G>A (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
COSV59195164 rs181188384 | 14 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.61) Somatic: Yes Population frequencies: - MAF: 0.0003 (1000Genomes) Accession: NC_000023.11:g.154512910C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512910C>T Locations: - p.V14I (NCI-TCGA:ENST00000621967) - p.V14I (NCI-TCGA:ENST00000434658) - p.V14I (NCI-TCGA:ENST00000449971) - p.V14I (NCI-TCGA:ENST00000421517) - p.Val14Ile (Ensembl:ENST00000421517) - c.40G>A (Ensembl:ENST00000421517) - p.Val14Ile (Ensembl:ENST00000449971) - c.40G>A (Ensembl:ENST00000449971) - p.Val14Ile (Ensembl:ENST00000434658) - c.40G>A (Ensembl:ENST00000434658) - p.Val14Ile (Ensembl:ENST00000621967) - c.40G>A (Ensembl:ENST00000621967) Source type: large scale study | |||||||
rs2069973376 | 16 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512903A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512903A>C Locations: - p.Val16Gly (Ensembl:ENST00000421517) - c.47T>G (Ensembl:ENST00000421517) - p.Val16Gly (Ensembl:ENST00000621967) - c.47T>G (Ensembl:ENST00000621967) - p.Val16Gly (Ensembl:ENST00000434658) - c.47T>G (Ensembl:ENST00000434658) - p.Val16Gly (Ensembl:ENST00000449971) - c.47T>G (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
COSV107373054 rs2069973172 | 17 | G>S | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.523) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.154512901C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512901C>T Locations: - p.Gly17Ser (Ensembl:ENST00000621967) - c.49G>A (Ensembl:ENST00000621967) - p.Gly17Ser (Ensembl:ENST00000434658) - c.49G>A (Ensembl:ENST00000434658) - p.Gly17Ser (Ensembl:ENST00000449971) - c.49G>A (Ensembl:ENST00000449971) - p.Gly17Ser (Ensembl:ENST00000421517) - c.49G>A (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs1207168146 | 20 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512892A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512892A>G Locations: - p.Trp20Arg (Ensembl:ENST00000621967) - c.58T>C (Ensembl:ENST00000621967) - p.Trp20Arg (Ensembl:ENST00000434658) - c.58T>C (Ensembl:ENST00000434658) - p.Trp20Arg (Ensembl:ENST00000449971) - c.58T>C (Ensembl:ENST00000449971) - p.Trp20Arg (Ensembl:ENST00000421517) - c.58T>C (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
VAR_057531 rs35985994 | 21 | I>M | UniProt ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000023.11:g.154512887G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512887G>C Locations: - p.Ile21Met (UniProt:P98173) - p.Ile21Met (Ensembl:ENST00000421517) - c.63C>G (Ensembl:ENST00000421517) - p.Ile21Met (Ensembl:ENST00000449971) - c.63C>G (Ensembl:ENST00000449971) - p.Ile21Met (Ensembl:ENST00000434658) - c.63C>G (Ensembl:ENST00000434658) - p.Ile21Met (Ensembl:ENST00000621967) - c.63C>G (Ensembl:ENST00000621967) Source type: mixed Cross-references: | |||||||
rs141040279 | 21 | I>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512888A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512888A>C Locations: - p.Ile21Ser (Ensembl:ENST00000449971) - c.62T>G (Ensembl:ENST00000449971) - p.Ile21Ser (Ensembl:ENST00000421517) - c.62T>G (Ensembl:ENST00000421517) - p.Ile21Ser (Ensembl:ENST00000434658) - c.62T>G (Ensembl:ENST00000434658) - p.Ile21Ser (Ensembl:ENST00000621967) - c.62T>G (Ensembl:ENST00000621967) Source type: large scale study | |||||||
rs148149959 | 22 | V>A | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.154512885A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512885A>G Locations: - p.Val22Ala (Ensembl:ENST00000421517) - c.65T>C (Ensembl:ENST00000421517) - p.Val22Ala (Ensembl:ENST00000621967) - c.65T>C (Ensembl:ENST00000621967) - p.Val22Ala (Ensembl:ENST00000434658) - c.65T>C (Ensembl:ENST00000434658) - p.Val22Ala (Ensembl:ENST00000449971) - c.65T>C (Ensembl:ENST00000449971) Source type: large scale study | |||||||
COSV59194560 rs782638937 | 22 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.753) - SIFT: tolerated (0.26) Somatic: Yes Population frequencies: - MAF: 0.0000382 (gnomAD) Accession: NC_000023.11:g.154512886C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512886C>T Locations: - p.V22M (NCI-TCGA:ENST00000621967) - p.V22M (NCI-TCGA:ENST00000434658) - p.V22M (NCI-TCGA:ENST00000449971) - p.V22M (NCI-TCGA:ENST00000421517) - p.Val22Met (Ensembl:ENST00000621967) - c.64G>A (Ensembl:ENST00000621967) - p.Val22Met (Ensembl:ENST00000449971) - c.64G>A (Ensembl:ENST00000449971) - p.Val22Met (Ensembl:ENST00000434658) - c.64G>A (Ensembl:ENST00000434658) - p.Val22Met (Ensembl:ENST00000421517) - c.64G>A (Ensembl:ENST00000421517) Source type: large scale study | |||||||
rs1557223693 | 24 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.154512879C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512879C>T Locations: - p.Ser24Asn (Ensembl:ENST00000421517) - c.71G>A (Ensembl:ENST00000421517) - p.Ser24Asn (Ensembl:ENST00000621967) - c.71G>A (Ensembl:ENST00000621967) - p.Ser24Asn (Ensembl:ENST00000449971) - c.71G>A (Ensembl:ENST00000449971) - p.Ser24Asn (Ensembl:ENST00000434658) - c.71G>A (Ensembl:ENST00000434658) Source type: large scale study Cross-references: | |||||||
rs782487249 | 24 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512878G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512878G>T Locations: - p.Ser24Arg (Ensembl:ENST00000449971) - c.72C>A (Ensembl:ENST00000449971) - p.Ser24Arg (Ensembl:ENST00000434658) - c.72C>A (Ensembl:ENST00000434658) - p.Ser24Arg (Ensembl:ENST00000621967) - c.72C>A (Ensembl:ENST00000621967) - p.Ser24Arg (Ensembl:ENST00000421517) - c.72C>A (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs1603407013 | 25 | I>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512877T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512877T>A Locations: - p.Ile25Phe (Ensembl:ENST00000421517) - c.73A>T (Ensembl:ENST00000421517) - p.Ile25Phe (Ensembl:ENST00000449971) - c.73A>T (Ensembl:ENST00000449971) - p.Ile25Phe (Ensembl:ENST00000434658) - c.73A>T (Ensembl:ENST00000434658) - p.Ile25Phe (Ensembl:ENST00000621967) - c.73A>T (Ensembl:ENST00000621967) Source type: large scale study Cross-references: | |||||||
rs1603407013 | 25 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.154512877T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512877T>C Locations: - p.Ile25Val (Ensembl:ENST00000449971) - c.73A>G (Ensembl:ENST00000449971) - p.Ile25Val (Ensembl:ENST00000434658) - c.73A>G (Ensembl:ENST00000434658) - p.Ile25Val (Ensembl:ENST00000621967) - c.73A>G (Ensembl:ENST00000621967) - p.Ile25Val (Ensembl:ENST00000421517) - c.73A>G (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs1259515234 | 26 | L>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512873A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512873A>T Locations: - p.Leu26His (Ensembl:ENST00000421517) - c.77T>A (Ensembl:ENST00000421517) - p.Leu26His (Ensembl:ENST00000449971) - c.77T>A (Ensembl:ENST00000449971) - p.Leu26His (Ensembl:ENST00000434658) - c.77T>A (Ensembl:ENST00000434658) - p.Leu26His (Ensembl:ENST00000621967) - c.77T>A (Ensembl:ENST00000621967) Source type: large scale study Cross-references: | |||||||
rs1259515234 | 26 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512873A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512873A>C Locations: - p.Leu26Arg (Ensembl:ENST00000421517) - c.77T>G (Ensembl:ENST00000421517) - p.Leu26Arg (Ensembl:ENST00000449971) - c.77T>G (Ensembl:ENST00000449971) - p.Leu26Arg (Ensembl:ENST00000434658) - c.77T>G (Ensembl:ENST00000434658) - p.Leu26Arg (Ensembl:ENST00000621967) - c.77T>G (Ensembl:ENST00000621967) Source type: large scale study Cross-references: | |||||||
rs1557223660 | 28 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.154512868C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512868C>G Locations: - p.Gly28Arg (Ensembl:ENST00000421517) - c.82G>C (Ensembl:ENST00000421517) - p.Gly28Arg (Ensembl:ENST00000449971) - c.82G>C (Ensembl:ENST00000449971) - p.Gly28Arg (Ensembl:ENST00000434658) - c.82G>C (Ensembl:ENST00000434658) - p.Gly28Arg (Ensembl:ENST00000621967) - c.82G>C (Ensembl:ENST00000621967) Source type: large scale study Cross-references: | |||||||
rs2069969530 | 29 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.154512865C>T Codon: TGG/TAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512865C>T Locations: - p.Gly29Arg (Ensembl:ENST00000449971) - c.85G>A (Ensembl:ENST00000449971) - p.Gly29Arg (Ensembl:ENST00000434658) - c.85G>A (Ensembl:ENST00000434658) - p.Gly29Arg (Ensembl:ENST00000621967) - c.85G>A (Ensembl:ENST00000621967) - p.Gly29Arg (Ensembl:ENST00000421517) - c.85G>A (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs782046134 | 31 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512858C>T Codon: TGG/TGA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512858C>T Locations: - p.Gly31Asp (Ensembl:ENST00000421517) - c.92G>A (Ensembl:ENST00000421517) - p.Gly31Asp (Ensembl:ENST00000449971) - c.92G>A (Ensembl:ENST00000449971) - p.Gly31Asp (Ensembl:ENST00000621967) - c.92G>A (Ensembl:ENST00000621967) - p.Gly31Asp (Ensembl:ENST00000434658) - c.92G>A (Ensembl:ENST00000434658) Source type: large scale study | |||||||
rs782726344 | 31 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.523) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000023.11:g.154512859C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512859C>T Locations: - p.Gly31Ser (Ensembl:ENST00000421517) - c.91G>A (Ensembl:ENST00000421517) - p.Gly31Ser (Ensembl:ENST00000621967) - c.91G>A (Ensembl:ENST00000621967) - p.Gly31Ser (Ensembl:ENST00000434658) - c.91G>A (Ensembl:ENST00000434658) - p.Gly31Ser (Ensembl:ENST00000449971) - c.91G>A (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
rs782791470 | 32 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.154512856T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512856T>C Locations: - p.Ser32Gly (Ensembl:ENST00000434658) - c.94A>G (Ensembl:ENST00000434658) - p.Ser32Gly (Ensembl:ENST00000621967) - c.94A>G (Ensembl:ENST00000621967) - p.Ser32Gly (Ensembl:ENST00000449971) - c.94A>G (Ensembl:ENST00000449971) - p.Ser32Gly (Ensembl:ENST00000421517) - c.94A>G (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs2069968045 | 35 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.154512846G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512846G>A Locations: - p.Pro35Leu (Ensembl:ENST00000621967) - c.104C>T (Ensembl:ENST00000621967) - p.Pro35Leu (Ensembl:ENST00000434658) - c.104C>T (Ensembl:ENST00000434658) - p.Pro35Leu (Ensembl:ENST00000421517) - c.104C>T (Ensembl:ENST00000421517) - p.Pro35Leu (Ensembl:ENST00000449971) - c.104C>T (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
rs1409197794 | 36 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.154512844G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512844G>A Locations: - p.Arg36Cys (Ensembl:ENST00000621967) - c.106C>T (Ensembl:ENST00000621967) - p.Arg36Cys (Ensembl:ENST00000434658) - c.106C>T (Ensembl:ENST00000434658) - p.Arg36Cys (Ensembl:ENST00000449971) - c.106C>T (Ensembl:ENST00000449971) - p.Arg36Cys (Ensembl:ENST00000421517) - c.106C>T (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs200730944 | 36 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.154512843C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512843C>T Locations: - p.Arg36His (Ensembl:ENST00000421517) - c.107G>A (Ensembl:ENST00000421517) - p.Arg36His (Ensembl:ENST00000621967) - c.107G>A (Ensembl:ENST00000621967) - p.Arg36His (Ensembl:ENST00000434658) - c.107G>A (Ensembl:ENST00000434658) - p.Arg36His (Ensembl:ENST00000449971) - c.107G>A (Ensembl:ENST00000449971) Source type: large scale study | |||||||
rs2069945866 | 45 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.154512405C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512405C>T Locations: - p.Ser45Asn (Ensembl:ENST00000421517) - c.134G>A (Ensembl:ENST00000421517) - p.Ser45Asn (Ensembl:ENST00000434658) - c.134G>A (Ensembl:ENST00000434658) - p.Ser45Asn (Ensembl:ENST00000621967) - c.134G>A (Ensembl:ENST00000621967) - p.Ser45Asn (Ensembl:ENST00000449971) - c.134G>A (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
rs2069945379 | 46 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000023.11:g.154512403C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512403C>T Locations: - p.Ala46Thr (Ensembl:ENST00000434658) - c.136G>A (Ensembl:ENST00000434658) - p.Ala46Thr (Ensembl:ENST00000421517) - c.136G>A (Ensembl:ENST00000421517) - p.Ala46Thr (Ensembl:ENST00000621967) - c.136G>A (Ensembl:ENST00000621967) - p.Ala46Thr (Ensembl:ENST00000449971) - c.136G>A (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
rs1557223374 | 49 | Q>* | gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000023.11:g.154512394G>A Codon: CAA/TAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512394G>A Locations: - p.Gln49Ter (Ensembl:ENST00000621967) - c.145C>T (Ensembl:ENST00000621967) - p.Gln49Ter (Ensembl:ENST00000421517) - c.145C>T (Ensembl:ENST00000421517) - p.Gln49Ter (Ensembl:ENST00000449971) - c.145C>T (Ensembl:ENST00000449971) - p.Gln49Ter (Ensembl:ENST00000434658) - c.145C>T (Ensembl:ENST00000434658) Source type: large scale study Cross-references: | |||||||
rs782702599 | 51 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.154512387C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512387C>G Locations: - p.Arg51Pro (Ensembl:ENST00000434658) - c.152G>C (Ensembl:ENST00000434658) - p.Arg51Pro (Ensembl:ENST00000421517) - c.152G>C (Ensembl:ENST00000421517) - p.Arg51Pro (Ensembl:ENST00000449971) - c.152G>C (Ensembl:ENST00000449971) - p.Arg51Pro (Ensembl:ENST00000621967) - c.152G>C (Ensembl:ENST00000621967) Source type: large scale study | |||||||
rs782702599 | 51 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.154512387C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512387C>T Locations: - p.Arg51Gln (Ensembl:ENST00000434658) - c.152G>A (Ensembl:ENST00000434658) - p.Arg51Gln (Ensembl:ENST00000421517) - c.152G>A (Ensembl:ENST00000421517) - p.Arg51Gln (Ensembl:ENST00000621967) - c.152G>A (Ensembl:ENST00000621967) - p.Arg51Gln (Ensembl:ENST00000449971) - c.152G>A (Ensembl:ENST00000449971) Source type: large scale study | |||||||
rs1390050210 | 51 | R>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.154512388G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512388G>A Locations: - p.Arg51Trp (Ensembl:ENST00000621967) - c.151C>T (Ensembl:ENST00000621967) - p.Arg51Trp (Ensembl:ENST00000449971) - c.151C>T (Ensembl:ENST00000449971) - p.Arg51Trp (Ensembl:ENST00000434658) - c.151C>T (Ensembl:ENST00000434658) - p.Arg51Trp (Ensembl:ENST00000421517) - c.151C>T (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs1056675835 | 52 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.154512385A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512385A>G Locations: - p.Phe52Leu (Ensembl:ENST00000421517) - c.154T>C (Ensembl:ENST00000421517) - p.Phe52Leu (Ensembl:ENST00000621967) - c.154T>C (Ensembl:ENST00000621967) - p.Phe52Leu (Ensembl:ENST00000434658) - c.154T>C (Ensembl:ENST00000434658) - p.Phe52Leu (Ensembl:ENST00000449971) - c.154T>C (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
rs2069943274 | 56 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000023.11:g.154512373A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512373A>G Locations: - p.Ser56Pro (Ensembl:ENST00000434658) - c.166T>C (Ensembl:ENST00000434658) - p.Ser56Pro (Ensembl:ENST00000621967) - c.166T>C (Ensembl:ENST00000621967) - p.Ser56Pro (Ensembl:ENST00000421517) - c.166T>C (Ensembl:ENST00000421517) - p.Ser56Pro (Ensembl:ENST00000449971) - c.166T>C (Ensembl:ENST00000449971) Source type: large scale study Cross-references: | |||||||
rs1603406536 | 57 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000023.11:g.154512369G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512369G>A Locations: - p.Thr57Ile (Ensembl:ENST00000434658) - c.170C>T (Ensembl:ENST00000434658) - p.Thr57Ile (Ensembl:ENST00000621967) - c.170C>T (Ensembl:ENST00000621967) - p.Thr57Ile (Ensembl:ENST00000449971) - c.170C>T (Ensembl:ENST00000449971) - p.Thr57Ile (Ensembl:ENST00000421517) - c.170C>T (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs1372021307 | 62 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000023.11:g.154512354G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512354G>T Locations: - p.Ala62Glu (Ensembl:ENST00000621967) - c.185C>A (Ensembl:ENST00000621967) - p.Ala62Glu (Ensembl:ENST00000434658) - c.185C>A (Ensembl:ENST00000434658) - p.Ala62Glu (Ensembl:ENST00000449971) - c.185C>A (Ensembl:ENST00000449971) - p.Ala62Glu (Ensembl:ENST00000421517) - c.185C>A (Ensembl:ENST00000421517) Source type: large scale study Cross-references: | |||||||
rs1372021307 | 62 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000023.11:g.154512354G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512354G>A Locations: - p.Ala62Val (Ensembl:ENST00000621967) - c.185C>T (Ensembl:ENST00000621967) - p.Ala62Val (Ensembl:ENST00000449971) - c.185C>T (Ensembl:ENST00000449971) - p.Ala62Val (Ensembl:ENST00000421517) - c.185C>T (Ensembl:ENST00000421517) - p.Ala62Val (Ensembl:ENST00000434658) - c.185C>T (Ensembl:ENST00000434658) Source type: large scale study Cross-references: | |||||||
rs1557223332 | 63 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000023.11:g.154512352T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512352T>C Locations: - p.Ile63Val (Ensembl:ENST00000621967) - c.187A>G (Ensembl:ENST00000621967) - p.Ile63Val (Ensembl:ENST00000449971) - c.187A>G (Ensembl:ENST00000449971) - p.Ile63Val (Ensembl:ENST00000421517) - c.187A>G (Ensembl:ENST00000421517) - p.Ile63Val (Ensembl:ENST00000434658) - c.187A>G (Ensembl:ENST00000434658) Source type: large scale study Cross-references: | |||||||
rs2069941814 | 68 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.154512336G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512336G>A Locations: - p.Pro68Leu (Ensembl:ENST00000621967) - c.203C>T (Ensembl:ENST00000621967) - p.Pro68Leu (Ensembl:ENST00000421517) - c.203C>T (Ensembl:ENST00000421517) - p.Pro68Leu (Ensembl:ENST00000449971) - c.203C>T (Ensembl:ENST00000449971) - p.Pro68Leu (Ensembl:ENST00000434658) - c.203C>T (Ensembl:ENST00000434658) Source type: large scale study Cross-references: | |||||||
rs1434069942 | 69 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.154512334G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512334G>C Locations: - p.Pro69Ala (Ensembl:ENST00000421517) - c.205C>G (Ensembl:ENST00000421517) - p.Pro69Ala (Ensembl:ENST00000621967) - c.205C>G (Ensembl:ENST00000621967) - p.Pro69Ala (Ensembl:ENST00000449971) - c.205C>G (Ensembl:ENST00000449971) - p.Pro69Ala (Ensembl:ENST00000434658) - c.205C>G (Ensembl:ENST00000434658) Source type: large scale study Cross-references: | |||||||
rs781967876 | 70 | E>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000023.11:g.154512331C>A Codon: GAG/TAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512331C>A Locations: - p.Glu70Ter (Ensembl:ENST00000434658) - c.208G>T (Ensembl:ENST00000434658) - p.Glu70Ter (Ensembl:ENST00000449971) - c.208G>T (Ensembl:ENST00000449971) - p.Glu70Ter (Ensembl:ENST00000421517) - c.208G>T (Ensembl:ENST00000421517) - p.Glu70Ter (Ensembl:ENST00000621967) - c.208G>T (Ensembl:ENST00000621967) Source type: large scale study Cross-references: | |||||||
rs781967876 | 70 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.154512331C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.154512331C>T Locations: - p.Glu70Lys (Ensembl:ENST00000449971) - c.208G>A (Ensembl:ENST00000449971) - p.Glu70Lys (Ensembl:ENST00000434658) - c.208G>A (Ensembl:ENST00000434658) - p.Glu70Lys (Ensembl:ENST00000421517) - c.208G>A (Ensembl:ENST00000421517) - p.Glu70Lys (Ensembl:ENST00000621967) - c.208G>A (Ensembl:ENST00000621967) Source type: large scale study Cross-references: |