Variant position: 518 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 593 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 TFKLTLHLQNTSTTRPVLGL LVCFLYNEALYSLPRAFFKVP
Mouse TFKLTLHLQNTSTARPVLGL HVCFLYNKALYALPQAFFKVP
Caenorhabditis elegans TFRMTIHLL-SSSKQNLYDM HLSIISDPELYDFDTPLIPVH
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 – 593 Bardet-Biedl syndrome 1 protein
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K.; Nishimura D.Y.; Searby C.C.; Beck G.; Bugge K.; Haines H.L.; Cornier A.S.; Cox G.F.; Fulton A.B.; Carmi R.; Iannaccone A.; Jacobson S.G.; Weleber R.G.; Wright A.F.; Riise R.; Hennekam R.C.M.; Lueleci G.; Berker-Karauzum S.; Biesecker L.G.; Stone E.M.; Sheffield V.C.;
Am. J. Hum. Genet. 72:429-437(2003)
Cited for: VARIANTS BBS1 200-ILE-THR-201 DEL; ARG-390 AND PRO-518;
Further support for digenic inheritance in Bardet-Biedl syndrome.
Fauser S.; Munz M.; Besch D.;
J. Med. Genet. 40:E104-E104(2003)
Cited for: VARIANTS BBS1 ARG-390 AND PRO-518;
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