Variant position: 292 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 LMCGPPPMIQYACLPNLDHV GHPTERCFVF
Mouse LMCGPPPMIQFACLPNLERV GHPKERCFTF
Rat LMCGPPPMIQFACLPNLERV GHPKERCFTF
Bovine LMCGPPPMIQYACLPNLDRV GHPKERCFAF
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
Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.
Percy M.J.; Gillespie M.J.S.; Savage G.; Hughes A.E.; McMullin M.F.; Lappin T.R.J.;
Cited for: VARIANTS METHB-CYB5R3 GLU-256 DEL AND ASP-292;
Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.
Percy M.J.; Crowley L.J.; Davis C.A.; McMullin M.F.; Savage G.; Hughes J.; McMahon C.; Quinn R.J.M.; Smith O.; Barber M.J.; Lappin T.R.J.;
Br. J. Haematol. 129:847-853(2005)
Cited for: CHARACTERIZATION OF VARIANTS METHB-CYB5R3 GLU-256 DEL AND ASP-292;
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