Variant position: 632 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 721 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 ADMADHSNLIRSLLVGAEDA RLMRDMKTMKSRYMELYDLNR
Mouse ADMADNSNLIRSLLVRAEDA RLMRDMKTMKSRYMELYDLNK
Rat ANMADNSNLIRSLLVRAEDA RLMRDMKTMKTRYMELYDLNK
Zebrafish AAMADHSNYIRNMLVQAEDA RLMGDWRNMKKRYIELYDLNR
Caenorhabditis elegans AELQERQAAVKEIIIRAEDS IAIDNIPDARKFYIRLKANDA
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 – 721 Bardet-Biedl syndrome 2 protein
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
Shevach E.; Ali M.; Mizrahi-Meissonnier L.; McKibbin M.; El-Asrag M.; Watson C.M.; Inglehearn C.F.; Ben-Yosef T.; Blumenfeld A.; Jalas C.; Banin E.; Sharon D.;
JAMA Ophthalmol. 133:312-318(2015)
Cited for: INVOLVEMENT IN RP74; VARIANTS RP74 ASP-33; ALA-104; ARG-134 AND PRO-632;
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Katsanis N.; Ansley S.J.; Badano J.L.; Eichers E.R.; Lewis R.A.; Hoskins B.E.; Scambler P.J.; Davidson W.S.; Beales P.L.; Lupski J.R.;
Cited for: VARIANTS BBS2 SER-70; ALA-104; GLN-315; TRP-315; ILE-558 AND PRO-632;
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: VARIANTS BBS2 CYS-81; ALA-104; ARG-125; PRO-136; TRP-307; CYS-317 AND PRO-632;
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.