Variant position: 236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 570 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 PGILIEMSEVQLMRLLPIKK STALKVALFCTTLSGDTSDTG
Mouse PGLLIEASEVQLRRLLPTQK ASGLRVALFCTSLSGDFSNAG
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 – 570 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
198 – 370 Substrate-binding apical domain
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Seo S.; Baye L.M.; Schulz N.P.; Beck J.S.; Zhang Q.; Slusarski D.C.; Sheffield V.C.;
Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010)
Cited for: FUNCTION; IDENTIFICATION IN A MULTIPROTEIN COMPLEX; INTERACTION WITH BBS2; CHARACTERIZATION OF VARIANTS BBS6 CYS-37; ASP-52; ALA-57; TYR-84; PRO-236 AND PRO-277;
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
Beales P.L.; Katsanis N.; Lewis R.A.; Ansley S.J.; Elcioglu N.; Raza J.; Woods M.O.; Green J.S.; Parfrey P.S.; Davidson W.S.; Lupski J.R.;
Am. J. Hum. Genet. 68:606-616(2001)
Cited for: VARIANTS BBS6 MET-32; ALA-57; PRO-236; ALA-286; SER-499; ALA-511 AND HIS-518; VARIANT SER-242;
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales P.L.; Badano J.L.; Ross A.J.; Ansley S.J.; Hoskins B.E.; Kirsten B.; Mein C.A.; Froguel P.; Scambler P.J.; Lewis R.A.; Lupski J.R.; Katsanis N.;
Am. J. Hum. Genet. 72:1187-1199(2003)
Cited for: VARIANT BBS6 PRO-236; VARIANT PRO-325;
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