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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12830: Variant p.Asp257Val

Cadherin-1
Gene: CDH1
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Variant information Variant position: help 257 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 Aspartate (D) to Valine (V) at position 257 (D257V, p.Asp257Val). 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 medium size and acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 BCDS1; slightly decreases protein abundance; loss of cell membrane localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 257 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 882 The length of the canonical sequence.
Location on the sequence: help SNGNAVEDPMEILITVTDQN D NKPEFTQEVFKGSVMEGALP 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                         SNGNAVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALP

                              SNGNAVEDPMEIVITVTDQNDNKPEFTQAVFQGSVTEGALP

Mouse                         SNGEAVEDPMEIVITVTDQNDNRPEFTQEVFEGSVAEGAVP

Rat                           SNGEAVEDPMEIVVTVTDQNDNRPEFIQEVFEGSVAEGALP

Bovine                        SNGQAIEEPMEIVITVTDQNDNKPQFTQEVFKASALEGALP

Chicken                       ASGQPVEDPMEIIITVMDQNDNKPVFIKEVFVGYIEENAKP

Xenopus laevis                SNGANVEDPMEIIIKVQDQNDNDPVFTQSVFEGSVPEGSKP

Zebrafish                     VDADVTEKPMDIIVTVTDQNDNKPVFTQNPFNGNVPEALEK
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 155 – 882 Cadherin-1
Topological domain 155 – 709 Extracellular
Domain 155 – 262 Cadherin 1
Binding site 257 – 257
Binding site 257 – 257



Literature citations
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Ghoumid J.; Stichelbout M.; Jourdain A.S.; Frenois F.; Lejeune-Dumoulin S.; Alex-Cordier M.P.; Lebrun M.; Guerreschi P.; Duquennoy-Martinot V.; Vinchon M.; Ferri J.; Jung M.; Vicaire S.; Vanlerberghe C.; Escande F.; Petit F.; Manouvrier-Hanu S.;
Genet. Med. 19:1013-1021(2017)
Cited for: INVOLVEMENT IN BCDS1; VARIANTS BCDS1 TYR-254; VAL-257 AND VAL-454 DEL; CHARACTERIZATION OF VARIANTS BCDS1 TYR-254; VAL-257 AND VAL-454 DEL; SUBCELLULAR LOCATION;
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.