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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35520: Variant p.Gly85Arg

Cystathionine beta-synthase
Gene: CBS
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Variant information Variant position: help 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Arginine (R) at position 85 (G85R, p.Gly85Arg). 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: help Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In CBSD; loss of cystathionine beta-synthase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 551 The length of the canonical sequence.
Location on the sequence: help HHHTAPAKSPKILPDILKKI G DTPMVRINKIGKKFGLKCEL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         HHHTAPAKSPK--ILPDILKKIGDTPMVRINKIGKKFGLKCEL

Mouse                         HYHTVLTKSPK--ILPDILRKIGNTPMVRINKISKNAGLKC

Rat                           HYHTVPTKSPK--ILPDILRKIGNTPMVRINRISKNAGLKC

Rabbit                        HQHAALAKSPK--ILPDILQKIGDTPMVRINKIGKNFGLKC

Slime mold                    H---TTRRTPKKLIMDNILDNIGGTPLVRVNKVSSD--LEC

Baker's yeast                 H---------------NVIDLVGNTPLIALKKLPKALGIKP
Sequence annotation in neighborhood: help 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 65 – 65 axial binding residue
Beta strand 83 – 85



Literature citations
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Maclean K.N.; Gaustadnes M.; Oliveriusova J.; Janosik M.; Kraus E.; Kozich V.; Kery V.; Skovby F.; Ruediger N.; Ingerslev J.; Stabler S.P.; Allen R.H.; Kraus J.P.;
Hum. Mutat. 19:641-655(2002)
Cited for: VARIANTS CBSD ARG-85; THR-278; LEU-422; THR-435; ASN-444 AND LEU-466; CHARACTERIZATION OF VARIANTS CBSD ARG-85; LEU-422; THR-435 AND LEU-466; Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.
Casique L.; Kabil O.; Banerjee R.; Martinez J.C.; De Lucca M.;
Gene 531:117-124(2013)
Cited for: VARIANTS CBSD ARG-85; ASN-87 AND ASN-234; CHARACTERIZATION OF VARIANTS CBSD ASN-87 AND ASN-234; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; COFACTOR; SUBCELLULAR LOCATION; SUBUNIT;
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.