Q3THK7 · GUAA_MOUSE
- ProteinGMP synthase [glutamine-hydrolyzing]
- GeneGmps
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids693 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388615130 | 15 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000069.7:g.63887573G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63887573G>A Locations: - p.Gly15Glu (Ensembl:ENSMUST00000029405) - c.44G>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3393059674 | 56 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63887696C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63887696C>A Locations: - p.Pro56Gln (Ensembl:ENSMUST00000029405) - c.167C>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs1132555631 | 109 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.63893022T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63893022T>A Locations: - p.Met109Lys (Ensembl:ENSMUST00000029405) - c.326T>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs1133721296 | 117 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000069.7:g.63893046C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63893046C>A Locations: - p.Thr117Asn (Ensembl:ENSMUST00000029405) - c.350C>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs1132261604 | 118 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63893048G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63893048G>A Locations: - p.Val118Met (Ensembl:ENSMUST00000029405) - c.352G>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs1133057668 | 119 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000069.7:g.63893051C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63893051C>A Locations: - p.His119Asn (Ensembl:ENSMUST00000029405) - c.355C>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388636511 | 188 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63897611C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63897611C>G Locations: - p.Gln188Glu (Ensembl:ENSMUST00000029405) - c.562C>G (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388633129 | 192 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63897624A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63897624A>T Locations: - p.Glu192Val (Ensembl:ENSMUST00000029405) - c.575A>T (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388623247 | 302 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000069.7:g.63900630C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63900630C>T Locations: - p.Ser302Phe (Ensembl:ENSMUST00000029405) - c.905C>T (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388636521 | 330 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63900714C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63900714C>G Locations: - p.Thr330Arg (Ensembl:ENSMUST00000029405) - c.989C>G (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388630847 | 338 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.63900737A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.63900737A>T Locations: - p.Lys338Ter (Ensembl:ENSMUST00000029405) - c.1012A>T (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388630791 | 349 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63901227A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63901227A>C Locations: - p.Asn349His (Ensembl:ENSMUST00000029405) - c.1045A>C (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388628251 | 366 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63901279A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63901279A>G Locations: - p.Gln366Arg (Ensembl:ENSMUST00000029405) - c.1097A>G (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388634681 | 368 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63901285C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63901285C>T Locations: - p.Thr368Ile (Ensembl:ENSMUST00000029405) - c.1103C>T (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388625117 | 380 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000069.7:g.63901320G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63901320G>A Locations: - p.Val380Ile (Ensembl:ENSMUST00000029405) - c.1138G>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388625118 | 386 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.63901340A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63901340A>C Locations: - p.Glu386Asp (Ensembl:ENSMUST00000029405) - c.1158A>C (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388625116 | 447 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000069.7:g.63906043G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63906043G>C Locations: - p.Val447Leu (Ensembl:ENSMUST00000029405) - c.1339G>C (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388623213 | 489 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000069.7:g.63908965G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63908965G>T Locations: - p.Cys489Phe (Ensembl:ENSMUST00000029405) - c.1466G>T (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3541408038 | 517 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63909049T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63909049T>C Locations: - p.Val517Ala (Ensembl:ENSMUST00000029405) - c.1550T>C (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388633088 | 571 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000069.7:g.63921709C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63921709C>A Locations: - p.Pro571Thr (Ensembl:ENSMUST00000029405) - c.1711C>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388615123 | 579 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000069.7:g.63921735T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63921735T>A Locations: - p.Phe579Leu (Ensembl:ENSMUST00000029405) - c.1737T>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388632553 | 580 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63921737T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63921737T>C Locations: - p.Leu580Ser (Ensembl:ENSMUST00000029405) - c.1739T>C (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388636470 | 593 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000069.7:g.63921776T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63921776T>C Locations: - p.Phe593Ser (Ensembl:ENSMUST00000029405) - c.1778T>C (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: | |||||||
rs3388630689 | 599 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.63921794T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.63921794T>A Locations: - p.Leu599His (Ensembl:ENSMUST00000029405) - c.1796T>A (Ensembl:ENSMUST00000029405) Source type: large scale study Cross-references: |