Variant position: 184 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 341 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 INGVWNLSSDQGNLGTFFIT NVRIVWHANMNDSFNVSIPYL
Mouse INGVWNLSSDQGNLGTFFIT NVRIVWHANMNDSFNVSIPYL
Xenopus laevis INGVWNLSSDQGNLGTFFIT NVRIVWHANMNDSFNVSIPYL
Zebrafish INGVWNLSSDQGNLGTFFIT NVRIVWHANMNESFNVSIPYL
Caenorhabditis elegans VNGVWNLSTETGSLGVFVIT NIRVVWYAEMNIGYNVSVPYI
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 – 341 Bardet-Biedl syndrome 5 protein
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
Li J.B.; Gerdes J.M.; Haycraft C.J.; Fan Y.; Teslovich T.M.; May-Simera H.; Li H.; Blacque O.E.; Li L.; Leitch C.C.; Lewis R.A.; Green J.S.; Parfrey P.S.; Leroux M.R.; Davidson W.S.; Beales P.L.; Guay-Woodford L.M.; Yoder B.K.; Stormo G.D.; Katsanis N.; Dutcher S.K.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); INVOLVEMENT IN BBS5; VARIANTS SER-184 AND HIS-207;
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C.; Billingsley G.; Duncan J.L.; Bin J.; Theal R.; Vincent A.; Fieggen K.J.; Gerth C.; Noordeh N.; Traboulsi E.I.; Fishman G.A.; Chitayat D.; Knueppel T.; Millan J.M.; Munier F.L.; Kennedy D.; Jacobson S.G.; Innes A.M.; Mitchell G.A.; Boycott K.; Heon E.;
Hum. Mutat. 32:610-619(2011)
Cited for: VARIANT BBS5 SER-72; VARIANTS SER-184 AND ASP-251;
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