Sequence information
Variant position: 244 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:
RIATYTLFSHAVSSNGNAVE
D PMEILITVTDQNDNKPEFTQ
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 RIATYTLFSHAVSSNGNAVED PMEILITVTDQNDNKPEFTQ
Mouse AIAKYILYSHAVSSNGEAVED PMEIVITVTDQNDNRPEFTQ
Rat AIDKYLLYSHAVSSNGEAVED PMEIVVTVTDQNDNRPEFIQ
Bovine QIAKYILFSHAVSSNGQAIEE PMEIVITVTDQNDNKPQFTQ
Chicken KIDRYTLLSHAVSASGQPVED PMEIIITVMDQNDNKPVFIK
Xenopus laevis AIDNYVLFSHAVSSNGANVED PMEIIIKVQDQNDNDPVFTQ
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.
Literature citations
Germline mutations of E-cadherin gene in Korean familial gastric cancer patients.
Yoon K.-A.; Ku J.-L.; Yang H.-K.; Kim W.H.; Park S.Y.; Park J.-G.;
J. Hum. Genet. 44:177-180(1999)
Cited for: VARIANTS DGLBC GLY-244 AND ALA-487;
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.