Variant position: 58 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 SPDIKYPLRLIDREIISHDT RRFRFALPSPQHILGLPVGQH
Mouse NPDIKYPLRLIDKEVISPDT RRFRFALPSPQHILGLPIGQH
Rat NPDIKYPLRLIDKEIISHDT RRFRFALPSPQHILGLPIGQH
Bovine NPDIKYPLRLIDKEVISHDT RRFRFALPSPEHILGLPVGQH
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
40 – 152 FAD-binding FR-type
42 – 42 N6-acetyllysine
43 – 43 Phosphotyrosine
54 – 63
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-66; VARIANTS HM GLN-58; PRO-73 AND TYR-204;
Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.
Katsube T.; Sakamoto N.; Kobayashi Y.; Seki R.; Hirano M.; Tanishima K.; Tomoda A.; Takazakura E.; Yubisui T.; Takeshita M.; Sakaki Y.; Fukumaki Y.;
Am. J. Hum. Genet. 48:799-808(1991)
Cited for: VARIANTS METHB-CYB5R3 GLN-58 AND PRO-149;
Arginine-glutamine replacement at residue 57 of NADH-cytochrome b5 reductase in Chinese hereditary methemoglobinemia.
Huang C.-H.; Xie Y.; Wang Y.; Wu Y.-S.;
Zhonghua Xue Ye Xue Za Zhi 18:200-203(1997)
Cited for: VARIANT METHB-CYB5R3 GLN-58;
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.