Variant position: 472 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 613 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VEHHDHAVVSGRLAGENMTG AAK--PYWHQSMFWSDLGPDVGY
Mouse VEHHDHAVVSGRLAGENMTG AAK--PYWHQSMFWSDLGPDV
Rat VEHHDHAVVSGRLAGENMTG AAK--PYWHQSMFWSDLGPDV
Drosophila VEHHDHSVVSGRLAGENMTG AKK--PYQHQSMFWSDLGPEI
Slime mold VEHHDHARATGEMAGSNMST KDTPAPYTYQPFFWSDLTPGV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
102 – 613 Apoptosis-inducing factor 1, mitochondrial
134 – 483 FAD-dependent oxidoreductase
483 – 483 FAD; via carbonyl oxygen
483 – 483 NAD 1; via carbonyl oxygen
44 – 613 Missing. In isoform 6.
325 – 613 Missing. In isoform 4.
454 – 454 H -> A. Allows dimerization in absence of NADH.
477 – 477 W -> A. Disrupts dimerization; when associated with A-443--445-A.
480 – 480 S -> A. Allows dimerization in absence of NADH.
485 – 485 D -> A. Increases protein dimerization at lower NADH levels.
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Zong L.; Guan J.; Ealy M.; Zhang Q.; Wang D.; Wang H.; Zhao Y.; Shen Z.; Campbell C.A.; Wang F.; Yang J.; Sun W.; Lan L.; Ding D.; Xie L.; Qi Y.; Lou X.; Huang X.; Shi Q.; Chang S.; Xiong W.; Yin Z.; Yu N.; Zhao H.; Wang J.; Wang J.; Salvi R.J.; Petit C.; Smith R.J.; Wang Q.;
J. Med. Genet. 52:523-531(2015)
Cited for: INVOLVEMENT IN DFNX5; VARIANTS DFNX5 ALA-260; PHE-344; ARG-360; GLN-422; TRP-422; CYS-430; GLN-451; VAL-472; LEU-475; MET-498 AND MET-591;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.