Variant position: 1184 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:
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 IK-YNEEKRHVDQPIDYSLKY ATDIPSS-QKQSFSFSKSSSGQ
Mouse IK-YNEEKHHVDQPIDYSLKY ATDISSS-QKPSFSFSKNSS
Rat IK-YNEEKHHVDQPIDYSLKY ATDISSS-QKPSFSFSKTPS
Xenopus laevis IKAYASEEHHGEQPIDYSRKY STDVPSSAQKPSFPYSNNSS
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 – 2843 Adenomatous polyposis coli protein
960 – 1337 Responsible for down-regulation through a process mediated by direct ubiquitination
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
Lamlum H.; Ilyas M.; Rowan A.; Clark S.; Johnson V.; Bell J.A.; Frayling I.M.; Efstathiou J.; Pack K.; Payne S.; Roylance R.; Gorman P.; Sheer D.; Neale K.; Phillips R.; Talbot I.C.; Bodmer W.F.; Tomlinson I.P.M.;
Nat. Med. 5:1071-1075(1999)
Cited for: VARIANT FAP1 PRO-1184;
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.