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UniProtKB/Swiss-Prot P35520: Variant p.Thr353Met

Cystathionine beta-synthase
Gene: CBS
Variant information

Variant position:  353
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Threonine (T) to Methionine (M) at position 353 (T353M, p.Thr353Met).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (T) to medium size and hydrophobic (M)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  353
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:   TFARMLIAQEGLLCGGSAGS  T VAVAVKAAQELQEGQRCVVI
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                         TFARMLIAQEGLLCGGSAGSTVAVAVKAAQ---ELQEGQRCVVI

Mouse                         AFARMLIAQEGLLCGGSSGSAMAVAVKAAR---ELQEGQRC

Rat                           AFARMLISQEGLLCGGSSGSAMAVAVKAAQ---ELKEGQRC

Rabbit                        AFARMLIAQEGLLCGGSAGSAVAVAVKAAQ---ELQEGQRC

Slime mold                    IMARRLIKEEGLLCGGSSGSAMVGALLAAK---QLKKGQRC

Baker's yeast                 KYARQLISNEGVLVGGSSGSAFTAVVKYCEDHPELTEDDVI

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.

TypePositionsDescription
Chain 1 – 551 Cystathionine beta-synthase
Binding site 349 – 349 Pyridoxal phosphate
Helix 348 – 360


Literature citations

Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
Dawson P.A.; Cox A.J.; Emmerson B.T.; Dudman N.P.B.; Kraus J.P.; Gordon R.B.;
Eur. J. Hum. Genet. 5:15-21(1997)
Cited for: VARIANTS CBSD LYS-144; THR-278; GLU-331; MET-353 AND GLN-439;

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;

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Lee S.-J.; Lee D.H.; Yoo H.-W.; Koo S.K.; Park E.-S.; Park J.-W.; Lim H.G.; Jung S.-C.;
J. Hum. Genet. 50:648-654(2005)
Cited for: VARIANTS CBSD GLN-154; VAL-155; ASP-234 DEL; MET-257; THR-288; CYS-336; SER-347 AND MET-353; VARIANT CYS-18; CHARACTERIZATION OF VARIANTS CBSD GLN-154; VAL-155; ASP-234 DEL; MET-257; THR-288; CYS-336; SER-347 AND MET-353; CHARACTERIZATION OF VARIANT CYS-18;

Disclaimer: 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.