Variant position: 344 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 RAL-GTEVIQLFPEKGNMGKI LPEYLSNWTMEKVRREGVKVM
Mouse QAS-GIEVIQLFPEKGNMGKI LPQYLSNWTMEKVKREGVKV
Rat QAS-GIEVIQLFPEKGNMGKI LPEYLSNWTMEKVKREGVKV
Drosophila RENNGGKVYQVFQENANMSKV LPNYLSRWTTAKMEAQGVCV
Slime mold QDK-NIKIDQIFPESGVLSTL FPDYLSKYATEEIIKSGVNV
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
336 – 336 NAD 1
342 – 342 NAD 1
1 – 352 Missing. In isoform 5.
44 – 613 Missing. In isoform 6.
325 – 613 Missing. In isoform 4.
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.