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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q3SYG4: Variant p.Gly141Arg

Protein PTHB1
Gene: BBS9
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Variant information Variant position: help 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Arginine (R) at position 141 (G141R, p.Gly141Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In BBS9; severe loss of protein stability, probably due to aberrant folding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 887 The length of the canonical sequence.
Location on the sequence: help CQMKLMYEHNLQRTACNMTY G SFGGVKGRDLICIQSMDGML 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CQMKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSMDGML

Mouse                         YQIKLMYEHHLQRTACNMTYGPFGGVKGRDLICIQSLDGML

Xenopus laevis                YQMKLMYEHNLQRTACSMTHGPFGGVKGRDLICIQSMDGML

Caenorhabditis elegans        -----IFSHSFSTSAWNMCVIPIE--ESTPQILVQSIDCKL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 887 Protein PTHB1
Region 1 – 407 Seven-bladed beta-propeller
Site 141 – 141 Critical for protein stability
Mutagenesis 142 – 142 S -> G. Fails to restore protein stability; when associated with pathogenic variant BBS9 R-141.
Beta strand 135 – 141



Literature citations
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;
Disclaimer: 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.