Variant position: 32 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 MAMEPDRKAAVSHWQQQSYL DSGIHSGATTTAPSLSGKGNP
Mouse MAMEPDRKAAVSHWQQQSYL DSGIHSGATTTAPSLSGKGNP
Rat MAMEPDRKAAVSHWQQQSYL DSGIHSGATTTAPSLSGKGNP
Bovine MAMEPDRKAAVSHWQQQSYL DSGIHSGATTTAPSLSGKGNP
Dog MAMEPDRKAAVSHWQQQSYL DSGIHSGATTTAPSLSGKGNP
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
23 – 23 O-linked (GlcNAc); alternate
1 – 565 Missing. In isoform 2.
29 – 29 S -> F. No effect.
Beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.
Moreno-Bueno G.; Gamallo C.; Perez-Gallego L.; Contreras F.; Palacios J.;
Br. J. Dermatol. 145:576-581(2001)
Cited for: TISSUE SPECIFICITY; VARIANT PTR TYR-32;
Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene.
Koch A.; Denkhaus D.; Albrecht S.; Leuschner I.; von Schweinitz D.; Pietsch T.;
Cancer Res. 59:269-273(1999)
Cited for: VARIANTS HEPATOBLASTOMA TYR-32; VAL-34; CYS-37 AND ALA-41;
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;
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.