Variant position: 351 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 519 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 INFQPKMGELYMLLAVALTN LEDIENAKRAYAEAVHLDKC------N
Mouse INFQPKMGELYMLLAVALTN LEDIENARRAYVEAVRLDKC-
Bovine INFQPKMGELYMLLAVALTN LEDSENAKRAYEEAVRLDKC-
Xenopus tropicalis ISLHHGNAGLYMLLAVALTY LDDIENAKSSYQQAASLDQT-
Caenorhabditis elegans TELYPQNAKAVGAMAVILSH MNDDKNARLAYKKSIELKK--
Drosophila INLRKDNAECYMLLGLCLRK LDDMENAFVALERASSMATGQ
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
1 – 519 Bardet-Biedl syndrome 4 protein
339 – 371 TPR 9
338 – 519 Required for localization to centrosomes
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H.; Stoetzel C.; Laurier V.; Caron S.; Sigaudy S.; Sarda P.; Hamel C.; Martin-Coignard D.; Gilles M.; Leheup B.; Holder M.; Kaplan J.; Bitoun P.; Lacombe D.; Verloes A.; Bonneau D.; Perrin-Schmitt F.; Brandt C.; Besancon A.-F.; Mandel J.-L.; Cossee M.; Dollfus H.;
Eur. J. Hum. Genet. 13:607-616(2005)
Cited for: VARIANT BBS4 ARG-351; VARIANT THR-354;
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