Q9ERH6 · MOAP1_MOUSE
- ProteinModulator of apoptosis 1
- GeneMoap1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids352 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs13467988 | 21 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000078.7:g.102709487G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.102709487G>T Locations: - p.Leu21Ile (Ensembl:ENSMUST00000173760) - c.61C>A (Ensembl:ENSMUST00000173760) - p.Leu21Ile (Ensembl:ENSMUST00000178384) - c.61C>A (Ensembl:ENSMUST00000178384) Source type: large scale study Cross-references: | |||||||
rs3713010 | 30 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.102709460A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.102709460A>T Locations: - p.Cys30Ser (Ensembl:ENSMUST00000173760) - c.88T>A (Ensembl:ENSMUST00000173760) - p.Cys30Ser (Ensembl:ENSMUST00000178384) - c.88T>A (Ensembl:ENSMUST00000178384) Source type: large scale study Cross-references: | |||||||
rs13467989 | 134 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000078.7:g.102709148C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.102709148C>T Locations: - p.Asp134Asn (Ensembl:ENSMUST00000173760) - c.400G>A (Ensembl:ENSMUST00000173760) - p.Asp134Asn (Ensembl:ENSMUST00000178384) - c.400G>A (Ensembl:ENSMUST00000178384) Source type: large scale study Cross-references: | |||||||
rs3389256875 | 227 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000078.7:g.102708867G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.102708867G>T Locations: - p.Asn227Lys (Ensembl:ENSMUST00000173760) - c.681C>A (Ensembl:ENSMUST00000173760) - p.Asn227Lys (Ensembl:ENSMUST00000178384) - c.681C>A (Ensembl:ENSMUST00000178384) Source type: large scale study Cross-references: | |||||||
rs3549741643 | 337 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000078.7:g.102708539C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.102708539C>T Locations: - p.Glu337Lys (Ensembl:ENSMUST00000173760) - c.1009G>A (Ensembl:ENSMUST00000173760) - p.Glu337Lys (Ensembl:ENSMUST00000178384) - c.1009G>A (Ensembl:ENSMUST00000178384) Source type: large scale study Cross-references: | |||||||
rs3389229594 | 338 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.102708536C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.102708536C>A Locations: - p.Glu338Ter (Ensembl:ENSMUST00000173760) - c.1012G>T (Ensembl:ENSMUST00000173760) - p.Glu338Ter (Ensembl:ENSMUST00000178384) - c.1012G>T (Ensembl:ENSMUST00000178384) Source type: large scale study Cross-references: | |||||||
rs213634756 | 351 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000078.7:g.102708496C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.102708496C>A Locations: - p.Cys351Phe (Ensembl:ENSMUST00000173760) - c.1052G>T (Ensembl:ENSMUST00000173760) - p.Cys351Phe (Ensembl:ENSMUST00000178384) - c.1052G>T (Ensembl:ENSMUST00000178384) Source type: large scale study Cross-references: |