P40936 · INMT_MOUSE
- ProteinIndolethylamine N-methyltransferase
- GeneInmt
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids264 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388836517 | 35 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000072.7:g.55151865T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55151865T>A Locations: - p.Glu35Val (Ensembl:ENSMUST00000003569) - c.104A>T (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3388836485 | 48 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.55151827G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.55151827G>A Locations: - p.Gln48Ter (Ensembl:ENSMUST00000003569) - c.142C>T (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3388809509 | 63 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.55150448A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55150448A>T Locations: - p.Ile63Asn (Ensembl:ENSMUST00000003569) - c.188T>A (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3388826356 | 83 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.55150389T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55150389T>A Locations: - p.Ile83Phe (Ensembl:ENSMUST00000003569) - c.247A>T (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3388836492 | 111 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000072.7:g.55150305T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55150305T>C Locations: - p.Ile111Val (Ensembl:ENSMUST00000003569) - c.331A>G (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3388832972 | 127 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000072.7:g.55148247C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55148247C>A Locations: - p.Glu127Asp (Ensembl:ENSMUST00000003569) - c.381G>T (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3413000463 | 131 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.55148237T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.55148237T>A Locations: - p.Lys131Ter (Ensembl:ENSMUST00000003569) - c.391A>T (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3388826314 | 151 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000072.7:g.55148176C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55148176C>T Locations: - p.Gly151Glu (Ensembl:ENSMUST00000003569) - c.452G>A (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3388830563 | 178 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000072.7:g.55148095C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55148095C>T Locations: - p.Arg178Gln (Ensembl:ENSMUST00000003569) - c.533G>A (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs240093743 | 182 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.55148083C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55148083C>T Locations: - p.Arg182His (Ensembl:ENSMUST00000003569) - c.545G>A (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3396850692 | 189 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.55148063T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.55148063T>A Locations: - p.Lys189Ter (Ensembl:ENSMUST00000003569) - c.565A>T (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs3388815698 | 229 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.55147942G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55147942G>C Locations: - p.Ala229Gly (Ensembl:ENSMUST00000003569) - c.686C>G (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs256339138 | 239 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_000072.7:g.55147913C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55147913C>T Locations: - p.Val239Ile (Ensembl:ENSMUST00000003569) - c.715G>A (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: | |||||||
rs226811054 | 262 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000072.7:g.55147844G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.55147844G>T Locations: - p.Pro262Thr (Ensembl:ENSMUST00000003569) - c.784C>A (Ensembl:ENSMUST00000003569) Source type: large scale study Cross-references: |