Variant position: 338 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 ALGRKARAL-GTEVIQLFPEK GNMGKILPEYLSNWTMEKVRR
Mouse ALGRKSQAS-GIEVIQLFPEK GNMGKILPQYLSNWTMEKVK
Rat ALGRKSQAS-GIEVIQLFPEK GNMGKILPEYLSNWTMEKVK
Drosophila SLAHYSRENNGGKVYQVFQEN ANMSKVLPNYLSRWTTAKME
Slime mold AINSNFQDK-NIKIDQIFPES GVLSTLFPDYLSKYATEEII
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.
335 – 338
Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.
J. Mol. Biol. 428:3650-3665(2016)
Cited for: X-RAY CRYSTALLOGRAPHY (1.40 ANGSTROMS) OF 103-613 IN COMPLEX WITH FAD; CHARACTERIZATION OF VARIANT SER-262; CHARACTERIZATION OF VARIANTS COXPD6 LEU-243; GLU-308 AND GLU-338; FUNCTION; DNA-BINDING; FAD-BINDING; CATALYTIC ACTIVITY; COFACTOR;
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.
Diodato D.; Tasca G.; Verrigni D.; D'Amico A.; Rizza T.; Tozzi G.; Martinelli D.; Verardo M.; Invernizzi F.; Nasca A.; Bellacchio E.; Ghezzi D.; Piemonte F.; Dionisi-Vici C.; Carrozzo R.; Bertini E.;
Eur. J. Hum. Genet. 24:463-466(2016)
Cited for: VARIANT COXPD6 GLU-338; CHARACTERIZATION OF VARIANT COXPD6 GLU-338;
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.