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UniProtKB/Swiss-Prot P12830: Variant p.Asp257Val

Cadherin-1
Gene: CDH1
Variant information

Variant position:  257
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 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:  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:  -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

Involvement in disease:  Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580]: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. {ECO:0000269|PubMed:28301459}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In BCDS1; slightly decreases protein abundance; loss of cell membrane localization.
Any additional useful information about the variant.



Sequence information

Variant position:  257
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  882
The length of the canonical sequence.

Location on the sequence:   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: 
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

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 155 – 882 Cadherin-1
Topological domain 155 – 709 Extracellular
Domain 155 – 262 Cadherin 1
Metal binding 257 – 257 Calcium 1
Metal binding 257 – 257 Calcium 2


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.