P36046 · MIA40_YEAST
- ProteinMitochondrial intermembrane space import and assembly protein 40
- GeneMIA40
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids403 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s11-76120 | 99 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.91) Somatic: No Accession: XI:g.76115G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: XI:g.76115G>A Locations: - p.Asp99Asn (Ensembl:YKL195W_mRNA) - c.295G>A (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76120 | |||||||
s11-76129 | 102 | N>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.92) Somatic: No Accession: XI:g.76124A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: XI:g.76124A>G Locations: - p.Asn102Asp (Ensembl:YKL195W_mRNA) - c.304A>G (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76129 | |||||||
s11-76151 | 109 | G>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: XI:g.76146G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: XI:g.76146G>A Locations: - p.Gly109Glu (Ensembl:YKL195W_mRNA) - c.326G>A (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76151 | |||||||
s11-76172 | 116 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: XI:g.76167A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: XI:g.76167A>G Locations: - p.Asn116Ser (Ensembl:YKL195W_mRNA) - c.347A>G (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76172 | |||||||
s11-76345 | 174 | N>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.91) Somatic: No Accession: XI:g.76340A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: XI:g.76340A>G Locations: - p.Asn174Asp (Ensembl:YKL195W_mRNA) - c.520A>G (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76345 | |||||||
s11-76351 | 176 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: XI:g.76346A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: XI:g.76346A>G Locations: - p.Thr176Ala (Ensembl:YKL195W_mRNA) - c.526A>G (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76351 | |||||||
s11-76384 | 187 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: XI:g.76379T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: Genomic location: XI:g.76379T>C Locations: - p.Ser187Pro (Ensembl:YKL195W_mRNA) - c.559T>C (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76384 | |||||||
s11-76394 | 190 | S>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: XI:g.76389C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: Genomic location: XI:g.76389C>T Locations: - p.Ser190Leu (Ensembl:YKL195W_mRNA) - c.569C>T (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76394 | |||||||
s11-76465 | 214 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: XI:g.76460T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: Genomic location: XI:g.76460T>C Locations: - p.Ser214Pro (Ensembl:YKL195W_mRNA) - c.640T>C (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76465 | |||||||
s11-76526 | 234 | N>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: XI:g.76521A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: Genomic location: XI:g.76521A>T Locations: - p.Asn234Ile (Ensembl:YKL195W_mRNA) - c.701A>T (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76526 | |||||||
s11-76537 | 238 | E>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: XI:g.76532G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: XI:g.76532G>A Locations: - p.Glu238Lys (Ensembl:YKL195W_mRNA) - c.712G>A (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76537 | |||||||
s11-76913 | 363 | D>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: XI:g.76908A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: XI:g.76908A>G Locations: - p.Asp363Gly (Ensembl:YKL195W_mRNA) - c.1088A>G (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76913 | |||||||
s11-76919 | 365 | V>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.72) Somatic: No Accession: XI:g.76914T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: Genomic location: XI:g.76914T>C Locations: - p.Val365Ala (Ensembl:YKL195W_mRNA) - c.1094T>C (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-76919 | |||||||
s11-77006 | 394 | K>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: XI:g.77001A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: XI:g.77001A>G Locations: - p.Lys394Arg (Ensembl:YKL195W_mRNA) - c.1181A>G (Ensembl:YKL195W_mRNA) Source type: large scale study Cross-references: - SGRP: s11-77006 |