Variant position: 53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 74 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 QEGKSPRQCLKEGYCNSLKY AFFECKRSVLDNRARFRGRKG
Mouse QEGKSPRQCLKEGNCRALQY SFFECKRSMLDARSRFRGRKG
Bovine KEGKSPRQCLKEGNCKALKY SFFECKRSMLDARSRFRGRKG
Xenopus laevis QEGKSPKECLKEGYCKALQV TFFECKRSILDNRARFRGRKG
Xenopus tropicalis QEGKSPKECLKEGYCKALQV TFFECKRSILDTRARFRGRKG
Zebrafish KEGKKPSECLKEGHCRSMQV AFFECKRSMLDTRSRFRGRKG
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 – 74 Cytochrome c oxidase assembly factor 5
27 – 65 CHCH
47 – 57 Cx9C motif
37 – 37 Phosphoserine
30 – 57
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
Huigsloot M.; Nijtmans L.G.; Szklarczyk R.; Baars M.J.; van den Brand M.A.; Hendriksfranssen M.G.; van den Heuvel L.P.; Smeitink J.A.; Huynen M.A.; Rodenburg R.J.;
Am. J. Hum. Genet. 88:488-493(2011)
Cited for: FUNCTION; INVOLVEMENT IN CEMCOX3; VARIANT CEMCOX3 PRO-53;
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