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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12830: Variant p.Ala617Thr

Cadherin-1
Gene: CDH1
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Variant information Variant position: help 617 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Alanine (A) to Threonine (T) at position 617 (A617T, p.Ala617Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 Detected in an endometrial cancer sample; loss of heterozygosity; cells exhibited an intermediate phenotype concerning aggregation invasiveness and migration in vitro compared to cells transfected with wild-type sequence. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 617 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 PRTIFFCERNPKPQVINIID A DLPPNTSPFTAELTHGASAN 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                         PRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASAN

                              PRNMDFCQKNPQPHVINIIDPDLPPNTSPFTAELTHGASVN

Mouse                         PRNMQFCQRNPQPHIITILDPDLPPNTSPFTAELTHGASVN

Rat                           PRNMQFCQRNPKPHVITILDPDLPPNTSPFTAELTHGASVN

Bovine                        PRTMDFCQRNPEPHIININDPDLPPNTSPFTAELTHGASVN

Chicken                       PRSFEICSRQPEKQILSIVDKDLPPHTYPFKAALEHGSSNN

Xenopus laevis                PQQESFCQKDPGFRVFTIIDRDLSPNTYPYKAELTGESNEN

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 594 – 697 Cadherin 5
Glycosylation 622 – 622 N-linked (GlcNAc...) asparagine
Glycosylation 637 – 637 N-linked (GlcNAc...) asparagine
Mutagenesis 637 – 637 N -> Q. CDH1 becomes a substrate for ERAD and is retro-translocated from ER to cytoplasm.



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-478; THR-617; MET-832 AND LYS-880; Mutations of the E-cadherin gene in human gynecologic cancers.
Risinger J.I.; Berchuck A.; Kohler M.F.; Boyd J.;
Nat. Genet. 7:98-102(1994)
Cited for: VARIANTS THR-617 AND VAL-711; VARIANT OVARIAN CANCER GLY-838; Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands.
Suriano G.; Oliveira C.; Ferreira P.; Machado J.C.; Bordin M.C.; De Wever O.; Bruyneel E.A.; Moguilevsky N.; Grehan N.; Porter T.R.; Richards F.M.; Hruban R.H.; Roviello F.; Huntsman D.; Mareel M.; Carneiro F.; Caldas C.; Seruca R.;
Hum. Mol. Genet. 12:575-582(2003)
Cited for: VARIANTS THR-617 AND VAL-634; CHARACTERIZATION OF VARIANTS ALA-340; THR-617 AND VAL-634;
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.