Variant position: 6 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 231 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 MAGMV D---FQDEEQVKSFLENMEVECNY
Mouse MAGLV D---FQDEEQVKSFLENMEVE
Xenopus tropicalis MAGLV D---LKNEEEVKEYLDNLGTE
Zebrafish MAGLI N---FEDEQEVKQFLDNLGVE
Caenorhabditis elegans MSGKI SEEAMQEQAERAEYVKNIGIE
Drosophila --MAY D---LKKESDVKEYVEKLGVE
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
1 – 1 Removed
2 – 231 Cytochrome c oxidase assembly factor 7
2 – 2 N-acetylalanine
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Higuchi Y.; Okunushi R.; Hara T.; Hashiguchi A.; Yuan J.; Yoshimura A.; Murayama K.; Ohtake A.; Ando M.; Hiramatsu Y.; Ishihara S.; Tanabe H.; Okamoto Y.; Matsuura E.; Ueda T.; Toda T.; Yamashita S.; Yamada K.; Koide T.; Yaguchi H.; Mitsui J.; Ishiura H.; Yoshimura J.; Doi K.; Morishita S.; Sato K.; Nakagawa M.; Yamaguchi M.; Tsuji S.; Takashima H.;
Cited for: INVOLVEMENT IN SCAN3; VARIANTS SCAN3 GLY-6; TRP-39 AND ILE-149;
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