Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 887 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 CQMKLMYEHNLQRTACNMTY GSFGGVKGRDLICIQSMDGML
Mouse YQIKLMYEHHLQRTACNMTY GPFGGVKGRDLICIQSLDGML
Xenopus laevis YQMKLMYEHNLQRTACSMTH GPFGGVKGRDLICIQSMDGML
Caenorhabditis elegans -----IFSHSFSTSAWNMCV IPIE--ESTPQILVQSIDCKL
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 – 887 Protein PTHB1
1 – 407 Seven-bladed beta-propeller
141 – 141 Critical for protein stability
142 – 142 S -> G. Fails to restore protein stability; when associated with pathogenic variant BBS9 R-141.
135 – 141
Structural characterization of Bardet-Biedl syndrome 9 protein (BBS9).
Knockenhauer K.E.; Schwartz T.U.;
J. Biol. Chem. 290:19569-19583(2015)
Cited for: X-RAY CRYSTALLOGRAPHY (1.80 ANGSTROMS) OF 1-407; CHARACTERIZATION OF VARIANT BBS9 ARG-141; MUTAGENESIS OF SER-142 AND TYR-186;
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
Nishimura D.Y.; Swiderski R.E.; Searby C.C.; Berg E.M.; Ferguson A.L.; Hennekam R.C.M.; Merin S.; Weleber R.G.; Biesecker L.G.; Stone E.M.; Sheffield V.C.;
Am. J. Hum. Genet. 77:1021-1033(2005)
Cited for: VARIANT BBS9 ARG-141; TISSUE SPECIFICITY;
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