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UniProtKB/Swiss-Prot P35520: Variant p.Ala288Pro

Cystathionine beta-synthase
Gene: CBS
Variant information

Variant position:  288
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 Alanine (A) to Proline (P) at position 288 (A288P, p.Ala288Pro).
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 small size and hydrophobic (A) to medium size and hydrophobic (P)
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.
Any additional useful information about the variant.



Sequence information

Variant position:  288
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:   LKEKCPGCRIIGVDPEGSIL  A EPEELNQTEQTTYEVEGIGY
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                         LKEKCPGCRIIGVDPEGSILAEPEELNQTEQTTYEVEGIGY

Mouse                         LKEKCPGCKIIGVDPEGSILAEPEELNQTEQTAYEVEGIGY

Rat                           LKEKCPGCKIIGVDPEGSILAEPEELNQTEQTAYEVEGIGY

Rabbit                        LKEKCPGCQIIGVDPEGSILAEPEELNQTEVTAYEVEGIGY

Slime mold                    IKERLPNCIVVGVDPHGSILAQPESLNNTNKS-YKIEGIGY

Baker's yeast                 LKEQNDKIQIVGADPFGSILAQPENLNKTDITDYKVEGIGY

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
Mutagenesis 272 – 272 C -> A. Reduced heme content and cystathionine beta-synthase activity.
Mutagenesis 275 – 275 C -> S. Reduced heme content and cystathionine beta-synthase activity.
Beta strand 288 – 290


Literature citations

The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: vitamin B6 nonresponsiveness and a common ancestral haplotype.
Linnebank M.; Janosik M.; Kozich V.; Pronicka E.; Kubalska J.; Sokolova J.; Linnebank A.; Schmidt E.; Leyendecker C.; Klockgether T.; Kraus J.P.; Koch H.G.;
Hum. Mutat. 24:352-353(2004)
Cited for: VARIANTS CBSD 247-LYS--GLY-256 DEL; PRO-288 AND TRP-379;

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.