Variant position: 101 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 LKKIGDTPMVRINKIGKKFG LKCELLAKCEFFNAGGSVKDR
Mouse LRKIGNTPMVRINKISKNAG LKCELLAKCEFFNAGGSVKDR
Rat LRKIGNTPMVRINRISKNAG LKCELLAKCEFFNAGGSVKDR
Rabbit LQKIGDTPMVRINKIGKNFG LKCELLAKCEFFNAGGSVKDR
Slime mold LDNIGGTPLVRVNKVSSD-- LECELVAKCEFFNAGGSVKDR
Baker's yeast IDLVGNTPLIALKKLPKALG IKPQIYAKLELYNPGGSIKDR
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
119 – 119 N6-(pyridoxal phosphate)lysine
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;
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Gaustadnes M.; Wilcken B.; Oliveriusova J.; McGill J.; Fletcher J.; Kraus J.P.; Wilcken D.E.;
Hum. Mutat. 20:117-126(2002)
Cited for: VARIANTS CBSD LEU-49; PRO-101; ARG-109; GLN-125; LYS-144; TYR-165; LYS-228; THR-278; LYS-302; SER-307; GLU-331; CYS-336; SER-347; MET-353; CYS-369; MET-371 AND GLN-439; CHARACTERIZATION OF VARIANTS CBSD PRO-101; ARG-109; LYS-228 AND SER-347;
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger W.D.; Wang L.; Jhee K.H.; Singh R.H.; Elsas L.J. II;
Hum. Mutat. 22:434-441(2003)
Cited for: VARIANTS CBSD PRO-101; THR-226; SER-228; PRO-231; THR-278; SER-307; ALA-320; MET-353; ASN-376 AND LYS-526; CHARACTERIZATION OF VARIANTS CBSD PRO-101; THR-226; SER-228; PRO-231; THR-278; SER-307; ALA-320; MET-353; ASN-376 AND LYS-526;
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