Q8BVH9 · METL6_MOUSE
- ProteintRNA N(3)-methylcytidine methyltransferase METTL6
- GeneMettl6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids282 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs48344393 | 25 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.31215705T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31215705T>C Locations: - p.Asp25Gly (Ensembl:ENSMUST00000055303) - c.74A>G (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389317450 | 34 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.31215677C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31215677C>A Locations: - p.Gln34His (Ensembl:ENSMUST00000055303) - c.102G>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389315251 | 40 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000080.7:g.31215659C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31215659C>A Locations: - p.Glu40Asp (Ensembl:ENSMUST00000055303) - c.120G>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389318426 | 61 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.31215597T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31215597T>A Locations: - p.His61Leu (Ensembl:ENSMUST00000055303) - c.182A>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs262353927 | 64 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000080.7:g.31215589T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31215589T>A Locations: - p.Thr64Ser (Ensembl:ENSMUST00000055303) - c.190A>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389289524 | 119 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.31214284C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31214284C>T Locations: - p.Val119Met (Ensembl:ENSMUST00000055303) - c.355G>A (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389327731 | 120 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.31214280T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31214280T>A Locations: - p.Lys120Met (Ensembl:ENSMUST00000055303) - c.359A>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389327688 | 132 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.31209664A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31209664A>T Locations: - p.Val132Glu (Ensembl:ENSMUST00000055303) - c.395T>A (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389318237 | 143 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000080.7:g.31209631A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31209631A>G Locations: - p.Leu143Pro (Ensembl:ENSMUST00000055303) - c.428T>C (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3404705623 | 172 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.31209544A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31209544A>G Locations: - p.Leu172Ser (Ensembl:ENSMUST00000055303) - c.515T>C (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389272218 | 177 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000080.7:g.31209528C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31209528C>A Locations: - p.Lys177Asn (Ensembl:ENSMUST00000055303) - c.531G>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs213061052 | 198 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.31204829G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31204829G>A Locations: - p.Leu198Phe (Ensembl:ENSMUST00000055303) - c.592C>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389331730 | 209 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.31204795T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31204795T>A Locations: - p.Asn209Ile (Ensembl:ENSMUST00000055303) - c.626A>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389241283 | 233 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000080.7:g.31201744C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31201744C>T Locations: - p.Asp233Asn (Ensembl:ENSMUST00000055303) - c.697G>A (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389318194 | 234 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000080.7:g.31201740G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31201740G>A Locations: - p.Ala234Val (Ensembl:ENSMUST00000055303) - c.701C>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389315281 | 243 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.31201713T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31201713T>A Locations: - p.Tyr243Phe (Ensembl:ENSMUST00000055303) - c.728A>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3389318224 | 264 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.31201650C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31201650C>A Locations: - p.Ser264Ile (Ensembl:ENSMUST00000055303) - c.791G>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs3550909029 | 267 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000080.7:g.31201642G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31201642G>A Locations: - p.Arg267Trp (Ensembl:ENSMUST00000055303) - c.799C>T (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: | |||||||
rs1132918980 | 273 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000080.7:g.31201623G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.31201623G>T Locations: - p.Pro273Gln (Ensembl:ENSMUST00000055303) - c.818C>A (Ensembl:ENSMUST00000055303) Source type: large scale study Cross-references: |