Variant position: 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 325 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 M-----ALHSA-VSASDLELHPPSYP WSHRGLLSSLDHTSIRRGFQV
Mouse V-----ALHSA-VSASDLELHPPSYP WSHRGLLSSLDHTSI
Bovine V-----ALHSA-VSASDLELHPPSYP WSHRGLLSSLDHTSI
Slime mold T-----AITTSTTLLSDDFVQPTSYP WEHRFPWQSYDHAAI
Baker's yeast L-LYADSLTAEAMTAAEHGLHAPAYA WSHNGPFETFDHASI
Fission yeast YNVYGPSLSAG--TPKEEGLHFIQHD WPQSKVLSGFDHASL
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
85 – 325 Cytochrome c1, heme protein, mitochondrial
85 – 281 Mitochondrial intermembrane
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Gaignard P.; Menezes M.; Schiff M.; Bayot A.; Rak M.; Ogier de Baulny H.; Su C.H.; Gilleron M.; Lombes A.; Abida H.; Tzagoloff A.; Riley L.; Cooper S.T.; Mina K.; Sivadorai P.; Davis M.R.; Allcock R.J.; Kresoje N.; Laing N.G.; Thorburn D.R.; Slama A.; Christodoulou J.; Rustin P.;
Am. J. Hum. Genet. 93:384-389(2013)
Cited for: VARIANTS MC3DN6 CYS-96 AND PHE-215;
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