Variant position: 262 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 551 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 QQCDG-----KLDMLVASVGTGGTI TGIARKLKEKCPGCRIIGVDP
Mouse QQCDG-----KLDMLVASAGTGGTI TGIARKLKEKCPGCKI
Rat QQCDG-----KVDMLVASAGTGGTI TGIARKLKEKCPGCKI
Rabbit QQCDG-----KLDMLVASAGTGGTI TGIARKLKEKCPGCQI
Slime mold EQCEG-----KIDMIVCTAGTGGTI TGIARKIKERLPNCIV
Baker's yeast RQLEDLNLFDNLRAVVAGAGTGGTI SGISKYLKEQNDKIQI
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
1 – 551 Cystathionine beta-synthase
272 – 272 C -> A. Reduced heme content and cystathionine beta-synthase activity.
275 – 275 C -> S. Reduced heme content and cystathionine beta-synthase activity.
259 – 271
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Kim C.E.; Gallagher P.M.; Guttormsen A.B.; Refsum H.; Ueland P.M.; Ose L.; Foelling I.; Whitehead A.S.; Tsai M.Y.; Kruger W.D.;
Hum. Mol. Genet. 6:2213-2221(1997)
Cited for: VARIANTS CBSD MET-262; LYS-266; THR-278; SER-307; ALA-320 AND CYS-369;
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
Gallagher P.M.; Naughten E.; Hanson N.Q.; Schwichtenberg K.; Bignell M.; Yuan M.; Ward P.; Yap S.; Whitehead A.S.; Tsai M.Y.;
Mol. Genet. Metab. 65:298-302(1998)
Cited for: VARIANTS CBSD PRO-101; LYS-228; MET-262; THR-278; SER-307 AND PRO-355;
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.