Variant position: 336 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 371 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 HQIYTLDIHRPEDCWNKFIS NRTLGLIVFLGIVLGNLWKEK
Mouse HQIYTVDIHRAEDCWDKFTS NRTVGMLLFLGIVLGNLCKEK
Rat HQIYTVDIHRAEDCWEKFTS NRTVGLLLFLGIVLGNLYKDK
Bovine HQIYTLDINRPEDCWEKFTS NRTIGLIIFLGIVLGNLCKAK
Caenorhabditis elegans WQVGTVDIDNGSDCWDKFKS NSWMGIILFSGIVASTLLKEV
Drosophila QQIYSLNIDNPSDCAKKFIS NHQVGLILFLGIVLGTLLKSD
Slime mold WQLKTVDFNNPSSCLEKFIS NKNFGLYFLLIIIVSKLLQDK
Baker's yeast SMIKKVDLDNPKNCWKYFNA NINTGLYFTYALAVDYILRLF
Fission yeast SMIYKVDLDDPKDCFRWFKR NSNTGYLVAAAIALDWLAKSF
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
35 – 371 4-hydroxybenzoate polyprenyltransferase, mitochondrial
333 – 353 Helical
335 – 371 Missing. In isoform 3.
Mutations in COQ2 in familial and sporadic multiple-system atrophy.
Multiple-System Atrophy Research Collaboration;
N. Engl. J. Med. 369:233-244(2013)
Cited for: VARIANTS MSA1 LEU-29; HIS-49; THR-57; VAL-78; THR-97; SER-107; PHE-113; ALA-267; CYS-297; GLN-337 AND ALA-343; VARIANTS VAL-16; LEU-22; HIS-69 AND HIS-336;
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.