Variant position: 179 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 IRPDKKSNPIIRTVKSVGMI AGGTGITPMLQVIRAIMKDPD
Mouse IRADKKSNPVVRTVKSVGMI AGGTGITPMLQVIRAVLKDPN
Rat IRADKKSNPVVRTVKSVGMI AGGTGITPMLQVIRAVLKDPN
Bovine IRPDKKSDPVIKTVKSVGMI AGGTGITPMLQVIRAIMKDPD
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
173 – 180
Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.
Higasa K.; Manabe J.I.; Yubisui T.; Sumimoto H.; Pung-Amritt P.; Tanphaichitr V.S.; Fukumaki Y.;
Br. J. Haematol. 103:922-930(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 76-83 AND 171-187; VARIANT METHB-CYB5R3 VAL-179;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.