Sequence information
Variant position: 1296 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2843 The length of the canonical sequence.
Location on the sequence:
SLSSLSSAEDEIGCNQTTQE
A DSANTLQIAEIKEKIGTRSA
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 SLSSLSSAEDEI-GCNQTTQEA DSANTLQIAEIKEKIGTRSA
Mouse SLSSLSSADDEI-GCDQTTQEA DSANTLQTAEVKENDVTRS
Rat SLSSLSSAEDEI-GCDQTTQEA DSANTLQIAEIKENDVTRS
Xenopus laevis SLSSLSSAEDEIEGRERNSRGQ ESNNTLQITEPKE-ISAVS
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
Chain
2 – 2843
Adenomatous polyposis coli protein
Region
960 – 1337
Responsible for down-regulation through a process mediated by direct ubiquitination
Literature citations
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 VAL-1296; ILE-1472 AND GLY-1495;
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.