Variant position: 329 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 524 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 TGFLNSVTDIHQLSFLLGHE IAHAVLGHAAEKAGMVHLLDF
Mouse TGLLNSVTDVHQLSFLLGHE IAHAVLGHAAEKASLVHLLDF
Rat TGLLNSVTDMHQLSFLLGHE IAHAVLGHAAEKASLVHLLDF
Bovine TGLLNSVTDIHQLSFLLGHE IAHAVLEHAAEKASLVHLLDF
Zebrafish TGMLNAVTDIHQLTFILGHE MAHALIGHAAEQASLSHVVEL
Baker's yeast SSILPICANDDGIATVLAHE FAHQLARHTAENLSKAPIYSL
Fission yeast EGILPMCKGEDGLAAVLAHE TAHQVARHSAEKIAFTRAVS-
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
328 – 328
327 – 327 Zinc; catalytic
331 – 331 Zinc; catalytic
328 – 328 E -> Q. Abolished protease activity and ability to mediate cleavage of DELE1 in response to mitochondrial stress. Abolished ability to mediate cleavage of PINK1 in depolarized mitochondria.
331 – 331 H -> A. Abolishes ability to cleave OPA1 at S1 position.
Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.
Daoud H.; Valdmanis P.N.; Gros-Louis F.; Belzil V.; Spiegelman D.; Henrion E.; Diallo O.; Desjarlais A.; Gauthier J.; Camu W.; Dion P.A.; Rouleau G.A.;
Arch. Neurol. 68:587-593(2011)
Cited for: VARIANTS TYR-69; LEU-117; GLY-272; LEU-329 AND TYR-365;
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