Variant position: 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 86 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 MAEDMETKIKNYKTAPFDS RFPNQNQTRNCWQNYLDFHRC
Rhesus macaque AEEDIETKIKNYKTAPFDS RFPNQNQTRNCWQNYLDFHRC
Mouse MAEDIKTKIKNYKTAPFDS RFPNQNQTKNCWQNYLDFHRC
Bovine MAEDIQAKIKNYQTAPFDS RFPNQNQTRNCWQNYLDFHRC
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 – 86 Cytochrome c oxidase subunit 6B1
2 – 2 N-acetylalanine
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
Massa V.; Fernandez-Vizarra E.; Alshahwan S.; Bakhsh E.; Goffrini P.; Ferrero I.; Mereghetti P.; D'Adamo P.; Gasparini P.; Zeviani M.;
Am. J. Hum. Genet. 82:1281-1289(2008)
Cited for: VARIANT MC4DN7 HIS-20;
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