Variant position: 204 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 301 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 ITPMLQVIRAIMKDPDDHTV CHLLFANQTEKDILLRPELEE
Mouse ITPMLQVIRAVLKDPNDHTV CYLLFANQSEKDILLRPELEE
Rat ITPMLQVIRAVLKDPNDHTV CYLLFANQSEKDILLRPELEE
Bovine ITPMLQVIRAIMKDPDDHTV CHLLFANQTEKDILLRPELEE
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
2 – 301 NADH-cytochrome b5 reductase 3 membrane-bound form
27 – 301 NADH-cytochrome b5 reductase 3 soluble form
171 – 206 FAD
203 – 212
Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.
Vieira L.M.; Kaplan J.-C.; Kahn A.; Leroux A.;
Cited for: VARIANTS METHB-CYB5R3 ARG-204 AND MET-273 DEL;
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