Q9JKP5 · MBNL1_MOUSE
- ProteinMuscleblind-like protein 1
- GeneMbnl1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids341 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388613678 | 42 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.60437175A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60437175A>T Locations: - p.Ser42Cys (Ensembl:ENSMUST00000192607) - c.124A>T (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3388636481 | 75 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.60503065A>T Codon: TTA/TTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60503065A>T Locations: - p.Leu75Phe (Ensembl:ENSMUST00000192607) - c.225A>T (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3388623787 | 95 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.60503123A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60503123A>G Locations: - p.Met95Val (Ensembl:ENSMUST00000192607) - c.283A>G (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs228653854 | 127 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000069.7:g.60511149G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60511149G>A Locations: - p.Ser127Asn (Ensembl:ENSMUST00000192607) - c.380G>A (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3388623795 | 177 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.60511299G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60511299G>A Locations: - p.Arg177Gln (Ensembl:ENSMUST00000192607) - c.530G>A (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3388633162 | 227 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.60520817G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60520817G>A Locations: - p.Arg227Lys (Ensembl:ENSMUST00000192607) - c.680G>A (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3388629277 | 240 | A>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.60520854_60520855insTAACACT Codon: -/TAACACT Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.60520854_60520855insTAACACT Locations: - p.Ala240Ter (Ensembl:ENSMUST00000192607) - c.717_718insTAACACT (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3388633145 | 240 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000069.7:g.60520855G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60520855G>C Locations: - p.Ala240Pro (Ensembl:ENSMUST00000192607) - c.718G>C (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3393106808 | 264 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000069.7:g.60520927A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60520927A>G Locations: - p.Thr264Ala (Ensembl:ENSMUST00000192607) - c.790A>G (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3388623784 | 264 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000069.7:g.60520928C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60520928C>T Locations: - p.Thr264Ile (Ensembl:ENSMUST00000192607) - c.791C>T (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: | |||||||
rs3388633981 | 330 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000069.7:g.60528874G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.60528874G>A Locations: - p.Ser330Asn (Ensembl:ENSMUST00000192607) - c.989G>A (Ensembl:ENSMUST00000192607) Source type: large scale study Cross-references: |