Variant position: 215 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 PDLSYIVRARHGGEDYVFSL LTGYC-EPPTGVSLREGLYFNP
Mouse PDLSYIVRARHGGEDYVFSL LTGYC-EPPTGVSLREGLYFN
Bovine PDLSYIVRARHGGEDYVFSL LTGYC-EPPTGVSLREGLYFN
Slime mold PDLSLVIKARGAHEDYVFSL LTGYC-EPPAGVRVVGGQYFN
Baker's yeast PDLSLIVKARHGGCDYIFSL LTGYPDEPPAGVALPPGSNYN
Fission yeast PDLSCVVRGRHGGQDYIYSL LTGYT-EPPAGVEVPDGMNFN
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
208 – 216
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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