Variant position: 72 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 VTNLRILWHSLALSRVNVSV GYNCILNITTRTANS---KLRG-QT
Mouse VTNLRIIWHSLALPRVNLSI GYNCILNITTRTANS---KLR
Xenopus laevis VTNLRVIWHSLALPRVNLAV GYNCIINITTRTANS---KLR
Zebrafish VTNLRIIWHSLALPRVNLSV GYNCIINITTRTANS---KLR
Caenorhabditis elegans VTNLRLIWHAASMPRINITI GWNAITGVQSKQTTSLVTRNR
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
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
Hjortshoj T.D.; Gronskov K.; Philp A.R.; Nishimura D.Y.; Adeyemo A.; Rotimi C.N.; Sheffield V.C.; Rosenberg T.; Brondum-Nielsen K.;
Am. J. Med. Genet. A 146A:517-520(2008)
Cited for: VARIANTS BBS5 SER-72 AND ALA-183;
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;
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.