Variant position: 149 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 QYLESMQIGDTIEFRGPSGL LVYQGKGKFAIRPDKKSNPII
Mouse QYLENMKIGDTIEFRGPNGL LVYQGKGKFAIRADKKSNPVV
Rat QYLENMNIGDTIEFRGPNGL LVYQGKGKFAIRADKKSNPVV
Bovine QYLESMKIGDTIEFRGPNGL LVYQGKGKFAIRPDKKSDPVI
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
148 – 153
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;
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.