Q9JIF0 · ANM1_MOUSE
- ProteinProtein arginine N-methyltransferase 1
- GenePrmt1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids371 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388901082 | 19 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000073.7:g.44633538G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44633538G>C Locations: - p.Ala19Gly (Ensembl:ENSMUST00000107843) - c.56C>G (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388904889 | 49 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44632957A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44632957A>G Locations: - p.Ser49Pro (Ensembl:ENSMUST00000107843) - c.145T>C (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388908733 | 114 | V>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.44631170_44631171insTCCACACTACCTCAACCATCACTCA Codon: -/TGAGTGATGGTTGAGGTAGTGTGGA Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.44631170_44631171insTCCACACTACCTCAACCATCACTCA Locations: - p.Val114Ter (Ensembl:ENSMUST00000107843) - c.339_340insTGAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388907758 | 117 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44631073A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44631073A>T Locations: - p.Ile117Asn (Ensembl:ENSMUST00000107843) - c.350T>A (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388910359 | 120 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000073.7:g.44631065A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44631065A>G Locations: - p.Ser120Pro (Ensembl:ENSMUST00000107843) - c.358T>C (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388893788 | 134 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.44631022T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44631022T>A Locations: - p.Lys134Met (Ensembl:ENSMUST00000107843) - c.401A>T (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388880509 | 156 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44628895A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44628895A>C Locations: - p.Val156Gly (Ensembl:ENSMUST00000107843) - c.467T>G (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388908958 | 208 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44628327T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44628327T>C Locations: - p.Tyr208Cys (Ensembl:ENSMUST00000107843) - c.623A>G (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388898681 | 227 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.44628179T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44628179T>C Locations: - p.Ile227Val (Ensembl:ENSMUST00000107843) - c.679A>G (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388907712 | 236 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44628151A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44628151A>G Locations: - p.Leu236Pro (Ensembl:ENSMUST00000107843) - c.707T>C (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388907708 | 354 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000073.7:g.44626379T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44626379T>C Locations: - p.Asp354Gly (Ensembl:ENSMUST00000107843) - c.1061A>G (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: | |||||||
rs3388898678 | 356 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44626373T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44626373T>A Locations: - p.Lys356Met (Ensembl:ENSMUST00000107843) - c.1067A>T (Ensembl:ENSMUST00000107843) Source type: large scale study Cross-references: |