Variant position: 499 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 SVQADSPCVANWPDLLSQCG CGLYNSQEELNWSFLRSTRRP
Mouse SCQADSASVGNWSDTLSRCG CGLYNSQEELSWSVLRSTYHP
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
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
Kim J.C.; Ou Y.Y.; Badano J.L.; Esmail M.A.; Leitch C.C.; Fiedrich E.; Beales P.L.; Archibald J.M.; Katsanis N.; Rattner J.B.; Leroux M.R.;
J. Cell Sci. 118:1007-1020(2005)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BBS6 ASP-52; LEU-155; ALA-286; GLU-345 AND SER-499; CHARACTERIZATION OF VARIANT PRO-325;
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
Hirayama S.; Yamazaki Y.; Kitamura A.; Oda Y.; Morito D.; Okawa K.; Kimura H.; Cyr D.M.; Kubota H.; Nagata K.;
Mol. Biol. Cell 19:899-911(2008)
Cited for: SUBCELLULAR LOCATION; INTERACTION WITH STUB1; CHARACTERIZATION OF VARIANTS BBS6 CYS-37; ALA-57; SER-242; GLU-345 AND SER-499;
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;
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 BBS6 CYS-37; SER-242 AND SER-499;
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.