Variant position: 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 781 The length of the canonical sequence.
Location on the sequence:
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 AMEPDRKAAVSHWQQQSYLD SGIHSGATTTAPSLSGKGNPE
Mouse AMEPDRKAAVSHWQQQSYLD SGIHSGATTTAPSLSGKGNPE
Rat AMEPDRKAAVSHWQQQSYLD SGIHSGATTTAPSLSGKGNPE
Bovine AMEPDRKAAVSHWQQQSYLD SGIHSGATTTAPSLSGKGNPE
Xenopus laevis AMEPDRKAAVSHWQQQSYLD SGIHSGATTTAPSLSGKGNPE
Zebrafish AMDPDRKAAVSHWQQQSYLD SGIHSGATTTAPSLSGKGNPE
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.
Type Positions Description
2 – 781 Catenin beta-1
23 – 23 Phosphoserine; by GSK3-beta; alternate
29 – 29 Phosphoserine; by GSK3-beta
33 – 33 Phosphoserine; by GSK3-beta and HIPK2
37 – 37 Phosphoserine; by GSK3-beta and HIPK2
41 – 41 Phosphothreonine; by GSK3-beta
45 – 45 Phosphoserine
49 – 49 N6-acetyllysine
23 – 23 O-linked (GlcNAc) serine; alternate
29 – 29 S -> F. No effect.
A common human skin tumour is caused by activating mutations in beta-catenin.
Chan E.F.; Gat U.; McNiff J.M.; Fuchs E.;
Nat. Genet. 21:410-413(1999)
Cited for: VARIANTS PTR GLY-32; TYR-32; PHE-33; TYR-33; GLU-34; CYS-37; PHE-37 AND ILE-41;
Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity.
Legoix P.; Bluteau O.; Bayer J.; Perret C.; Balabaud C.; Belghiti J.; Franco D.; Thomas G.; Laurent-Puig P.; Zucman-Rossi J.;
Cited for: VARIANTS HEPATOCELLULAR CARCINOMA ARG-23; 25-TRP--SER-33 DEL; ALA-32; GLY-32; TYR-32; LEU-33; PHE-33; ARG-34; SER-35; ALA-37; 37-SER-GLY-38 DELINS TRP; TYR-37; ALA-41; ILE-41; PHE-45 AND PRO-45;
APC mutations in sporadic medulloblastomas.
Huang H.; Mahler-Araujo B.M.; Sankila A.; Chimelli L.; Yonekawa Y.; Kleihues P.; Ohgaki H.;
Am. J. Pathol. 156:433-437(2000)
Cited for: VARIANTS MDB PHE-33 AND ALA-37;
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.