Q6P5G3 · MBTD1_MOUSE
- ProteinMBT domain-containing protein 1
- GeneMbtd1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids631 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs261740739 | 6 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000077.7:g.93796048T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93796048T>G Locations: - p.Asp6Glu (Ensembl:ENSMUST00000107853) - c.18T>G (Ensembl:ENSMUST00000107853) - p.Asp6Glu (Ensembl:ENSMUST00000107854) - c.18T>G (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389162303 | 25 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000077.7:g.93796103G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93796103G>T Locations: - p.Val25Phe (Ensembl:ENSMUST00000107853) - c.73G>T (Ensembl:ENSMUST00000107853) - p.Val25Phe (Ensembl:ENSMUST00000107854) - c.73G>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389207636 | 26 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.61) Somatic: No Accession: NC_000077.7:g.93796107C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93796107C>G Locations: - p.Ala26Gly (Ensembl:ENSMUST00000107853) - c.77C>G (Ensembl:ENSMUST00000107853) - p.Ala26Gly (Ensembl:ENSMUST00000107854) - c.77C>G (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389188227 | 27 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000077.7:g.93796109C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93796109C>T Locations: - p.Pro27Ser (Ensembl:ENSMUST00000107853) - c.79C>T (Ensembl:ENSMUST00000107853) - p.Pro27Ser (Ensembl:ENSMUST00000107854) - c.79C>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389191652 | 41 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000077.7:g.93796151G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93796151G>A Locations: - p.Val41Ile (Ensembl:ENSMUST00000107853) - c.121G>A (Ensembl:ENSMUST00000107853) - p.Val41Ile (Ensembl:ENSMUST00000107854) - c.121G>A (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389191673 | 42 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.93796156C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.93796156C>G Locations: - p.Tyr42Ter (Ensembl:ENSMUST00000107853) - c.126C>G (Ensembl:ENSMUST00000107853) - p.Tyr42Ter (Ensembl:ENSMUST00000107854) - c.126C>G (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389202512 | 192 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000077.7:g.93812272C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93812272C>T Locations: - p.Thr192Ile (Ensembl:ENSMUST00000107853) - c.575C>T (Ensembl:ENSMUST00000107853) - p.Thr192Ile (Ensembl:ENSMUST00000107854) - c.575C>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389168066 | 230 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.93814046T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93814046T>C Locations: - p.Ser230Pro (Ensembl:ENSMUST00000107853) - c.688T>C (Ensembl:ENSMUST00000107853) - p.Ser230Pro (Ensembl:ENSMUST00000107854) - c.688T>C (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389207672 | 232 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93814053T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93814053T>C Locations: - p.Ile232Thr (Ensembl:ENSMUST00000107853) - c.695T>C (Ensembl:ENSMUST00000107853) - p.Ile232Thr (Ensembl:ENSMUST00000107854) - c.695T>C (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389191620 | 276 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93814694T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93814694T>A Locations: - p.Phe276Ile (Ensembl:ENSMUST00000107853) - c.826T>A (Ensembl:ENSMUST00000107853) - p.Phe276Ile (Ensembl:ENSMUST00000107854) - c.826T>A (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389193145 | 277 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000077.7:g.93814698C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93814698C>T Locations: - p.Ser277Leu (Ensembl:ENSMUST00000107853) - c.830C>T (Ensembl:ENSMUST00000107853) - p.Ser277Leu (Ensembl:ENSMUST00000107854) - c.830C>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs584280260 | 285 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000077.7:g.93815268A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815268A>T Locations: - p.Gln285His (Ensembl:ENSMUST00000107853) - c.855A>T (Ensembl:ENSMUST00000107853) - p.Gln285His (Ensembl:ENSMUST00000107854) - c.855A>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389193160 | 319 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93815369G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815369G>T Locations: - p.Arg319Leu (Ensembl:ENSMUST00000107853) - c.956G>T (Ensembl:ENSMUST00000107853) - p.Arg319Leu (Ensembl:ENSMUST00000107854) - c.956G>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3548951028 | 321 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93815375T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815375T>G Locations: - p.Val321Gly (Ensembl:ENSMUST00000107853) - c.962T>G (Ensembl:ENSMUST00000107853) - p.Val321Gly (Ensembl:ENSMUST00000107854) - c.962T>G (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3548954343 | 322 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93815377T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815377T>C Locations: - p.Tyr322His (Ensembl:ENSMUST00000107853) - c.964T>C (Ensembl:ENSMUST00000107853) - p.Tyr322His (Ensembl:ENSMUST00000107854) - c.964T>C (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389162288 | 329 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000077.7:g.93815399C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815399C>A Locations: - p.Thr329Lys (Ensembl:ENSMUST00000107853) - c.986C>A (Ensembl:ENSMUST00000107853) - p.Thr329Lys (Ensembl:ENSMUST00000107854) - c.986C>A (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3549056059 | 337 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000077.7:g.93815423A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815423A>G Locations: - p.His337Arg (Ensembl:ENSMUST00000107853) - c.1010A>G (Ensembl:ENSMUST00000107853) - p.His337Arg (Ensembl:ENSMUST00000107854) - c.1010A>G (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389201131 | 341 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000077.7:g.93815434A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815434A>C Locations: - p.Ile341Leu (Ensembl:ENSMUST00000107853) - c.1021A>C (Ensembl:ENSMUST00000107853) - p.Ile341Leu (Ensembl:ENSMUST00000107854) - c.1021A>C (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389195977 | 354 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000077.7:g.93815475C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815475C>A Locations: - p.Phe354Leu (Ensembl:ENSMUST00000107853) - c.1062C>A (Ensembl:ENSMUST00000107853) - p.Phe354Leu (Ensembl:ENSMUST00000107854) - c.1062C>A (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389192846 | 355 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93815478G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93815478G>T Locations: - p.Lys355Asn (Ensembl:ENSMUST00000107853) - c.1065G>T (Ensembl:ENSMUST00000107853) - p.Lys355Asn (Ensembl:ENSMUST00000107854) - c.1065G>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389196043 | 378 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.93817051A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.93817051A>T Locations: - p.Lys378Ter (Ensembl:ENSMUST00000107853) - c.1132A>T (Ensembl:ENSMUST00000107853) - p.Lys378Ter (Ensembl:ENSMUST00000107854) - c.1132A>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389194850 | 434 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93820508C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93820508C>A Locations: - p.Phe434Leu (Ensembl:ENSMUST00000107853) - c.1302C>A (Ensembl:ENSMUST00000107853) - p.Phe434Leu (Ensembl:ENSMUST00000107854) - c.1302C>A (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389188231 | 436 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000077.7:g.93820513A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93820513A>T Locations: - p.Tyr436Phe (Ensembl:ENSMUST00000107853) - c.1307A>T (Ensembl:ENSMUST00000107853) - p.Tyr436Phe (Ensembl:ENSMUST00000107854) - c.1307A>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389188214 | 444 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93820537T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93820537T>C Locations: - p.Phe444Ser (Ensembl:ENSMUST00000107853) - c.1331T>C (Ensembl:ENSMUST00000107853) - p.Phe444Ser (Ensembl:ENSMUST00000107854) - c.1331T>C (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389168073 | 523 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93823149G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93823149G>T Locations: - p.Arg523Leu (Ensembl:ENSMUST00000107853) - c.1568G>T (Ensembl:ENSMUST00000107853) - p.Arg523Leu (Ensembl:ENSMUST00000107854) - c.1568G>T (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3389202558 | 544 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.93823212C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.93823212C>A Locations: - p.Ser544Tyr (Ensembl:ENSMUST00000107853) - c.1631C>A (Ensembl:ENSMUST00000107853) - p.Ser544Tyr (Ensembl:ENSMUST00000107854) - c.1631C>A (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: | |||||||
rs3402634856 | 566 | Q>P | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.93823277_93823278insCATTTGTGTCCTTCTG Codon: CAG/CCATTTGTGTCCTTCTGAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.93823277_93823278insCATTTGTGTCCTTCTG Locations: - p.Gln566ProfsTer6 (Ensembl:ENSMUST00000107853) - c.1696_1697insCATTTGTGTCCTTCTG (Ensembl:ENSMUST00000107853) - p.Gln566ProfsTer6 (Ensembl:ENSMUST00000107854) - c.1696_1697insCATTTGTGTCCTTCTG (Ensembl:ENSMUST00000107854) Source type: large scale study Cross-references: |