Q8C7H1 · MMAA_MOUSE
- ProteinMethylmalonic aciduria type A homolog, mitochondrial
- GeneMmaa
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids415 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs36882637 | 12 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000074.7:g.80008202G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80008202G>A Locations: - p.Arg12Trp (Ensembl:ENSMUST00000048718) - c.34C>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs243892502 | 25 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000074.7:g.80008163A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80008163A>G Locations: - p.Trp25Arg (Ensembl:ENSMUST00000048718) - c.73T>C (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs224016419 | 31 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000074.7:g.80008144T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80008144T>G Locations: - p.His31Pro (Ensembl:ENSMUST00000048718) - c.92A>C (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388964064 | 46 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000074.7:g.80008100G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80008100G>C Locations: - p.His46Asp (Ensembl:ENSMUST00000048718) - c.136C>G (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388990278 | 69 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000074.7:g.80008030T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80008030T>C Locations: - p.Lys69Arg (Ensembl:ENSMUST00000048718) - c.206A>G (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs251865922 | 92 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000074.7:g.80007962T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80007962T>G Locations: - p.Lys92Gln (Ensembl:ENSMUST00000048718) - c.274A>C (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs222672401 | 126 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000074.7:g.80007859A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80007859A>C Locations: - p.Leu126Arg (Ensembl:ENSMUST00000048718) - c.377T>G (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs236334908 | 135 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.41) Somatic: No Accession: NC_000074.7:g.80007832T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80007832T>C Locations: - p.Gln135Arg (Ensembl:ENSMUST00000048718) - c.404A>G (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388990335 | 182 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.80004839G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80004839G>A Locations: - p.Thr182Ile (Ensembl:ENSMUST00000048718) - c.545C>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388980668 | 219 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.80000800C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80000800C>A Locations: - p.Arg219Ser (Ensembl:ENSMUST00000048718) - c.657G>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388991564 | 231 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.80000766C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80000766C>T Locations: - p.Gly231Arg (Ensembl:ENSMUST00000048718) - c.691G>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388990336 | 234 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.80000756T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80000756T>G Locations: - p.Asp234Ala (Ensembl:ENSMUST00000048718) - c.701A>C (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388990482 | 240 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000074.7:g.80000738G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.80000738G>A Locations: - p.Thr240Ile (Ensembl:ENSMUST00000048718) - c.719C>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388964042 | 243 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.79997601A>C Codon: GTA/GGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79997601A>C Locations: - p.Val243Gly (Ensembl:ENSMUST00000048718) - c.728T>G (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388986199 | 266 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.79997533C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79997533C>T Locations: - p.Gly266Arg (Ensembl:ENSMUST00000048718) - c.796G>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388997865 | 283 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000074.7:g.79995875C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79995875C>G Locations: - p.Val283Leu (Ensembl:ENSMUST00000048718) - c.847G>C (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3399018708 | 284 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000074.7:g.79995872C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79995872C>T Locations: - p.Val284Ile (Ensembl:ENSMUST00000048718) - c.850G>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3399293660 | 285 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.79995868A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79995868A>G Locations: - p.Ile285Thr (Ensembl:ENSMUST00000048718) - c.854T>C (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388993486 | 296 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.79995835G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79995835G>A Locations: - p.Ala296Val (Ensembl:ENSMUST00000048718) - c.887C>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388987053 | 297 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.79995833G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79995833G>T Locations: - p.Arg297Ser (Ensembl:ENSMUST00000048718) - c.889C>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388993662 | 314 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.79995781G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.79995781G>T Locations: - p.Ser314Ter (Ensembl:ENSMUST00000048718) - c.941C>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388993669 | 314-315 | SE>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.79995779_79995780insAACCATCACTCA Codon: -/TGAGTGATGGTT Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.79995779_79995780insAACCATCACTCA Locations: - p.Ser314_Glu315insTer (Ensembl:ENSMUST00000048718) - c.942_943insTGAGTGATGGTT (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs37520522 | 327 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000074.7:g.79994825C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994825C>T Locations: - p.Arg327Lys (Ensembl:ENSMUST00000048718) - c.980G>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388997455 | 336 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.79994797C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994797C>T Locations: - p.Trp336Ter (Ensembl:ENSMUST00000048718) - c.1008G>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388997902 | 348 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000074.7:g.79994763C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994763C>A Locations: - p.Ala348Ser (Ensembl:ENSMUST00000048718) - c.1042G>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388964071 | 349 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.79994760T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994760T>C Locations: - p.Ser349Gly (Ensembl:ENSMUST00000048718) - c.1045A>G (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs233720389 | 358 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000074.7:g.79994733T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994733T>C Locations: - p.Thr358Ala (Ensembl:ENSMUST00000048718) - c.1072A>G (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388990327 | 358 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.79994732G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994732G>A Locations: - p.Thr358Ile (Ensembl:ENSMUST00000048718) - c.1073C>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388991556 | 367 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000074.7:g.79994706G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994706G>A Locations: - p.Leu367Phe (Ensembl:ENSMUST00000048718) - c.1099C>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388990491 | 368 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.79994702A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994702A>T Locations: - p.Ile368Asn (Ensembl:ENSMUST00000048718) - c.1103T>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs46645944 | 383 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000074.7:g.79994657C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994657C>T Locations: - p.Arg383Gln (Ensembl:ENSMUST00000048718) - c.1148G>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs49871512 | 392 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000074.7:g.79994631T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994631T>C Locations: - p.Lys392Glu (Ensembl:ENSMUST00000048718) - c.1174A>G (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388990059 | 405 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.79994592C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994592C>A Locations: - p.Asp405Tyr (Ensembl:ENSMUST00000048718) - c.1213G>T (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388964032 | 409 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000074.7:g.79994578T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994578T>G Locations: - p.Lys409Asn (Ensembl:ENSMUST00000048718) - c.1227A>C (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: | |||||||
rs3388990524 | 413 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000074.7:g.79994567C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.79994567C>T Locations: - p.Ser413Asn (Ensembl:ENSMUST00000048718) - c.1238G>A (Ensembl:ENSMUST00000048718) Source type: large scale study Cross-references: |