Variant position: 320 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 TYEVEGIGYDFIPTVLDRTV VDKWFKSNDEEAFTFARMLIA
Mouse AYEVEGIGYDFIPTVLDRAV VDKWFKSNDEDSFAFARMLIA
Rat AYEVEGIGYDFIPTVLDRAV VDRWFKSNDDDSFAFARMLIS
Rabbit AYEVEGIGYDFIPTVLDRTV VDRWFKSTDKEAFAFARMLIA
Slime mold -YKIEGIGYDFIPNVLERKL VDQWIKTDDKESFIMARRLIK
Baker's yeast DYKVEGIGYDFVPQVLDRKL IDVWYKTDDKPSFKYARQLIS
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
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;
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;
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.