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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NFJ9: Variant p.Met390Arg

BBSome complex member BBS1
Gene: BBS1
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Variant information Variant position: help 390 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 Methionine (M) to Arginine (R) at position 390 (M390R, p.Met390Arg). 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 medium size and hydrophobic (M) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 BBS1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 390 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 593 The length of the canonical sequence.
Location on the sequence: help PDAVTSLCFGRYGREDNTLI M TTRGGGLIIKILKRTAVFVE 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                         PDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVE

Mouse                         PDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVE

Caenorhabditis elegans        EKPLAWVKYGCYGREDSTLVVAFKDGSIAIQIFRRKANFDT
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 2 – 593 BBSome complex member BBS1



Literature citations
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Mykytyn K.; Nishimura D.Y.; Searby C.C.; Shastri M.; Yen H.; Beck J.S.; Braun T.; Streb L.M.; Cornier A.S.; Cox G.F.; Fulton A.B.; Carmi R.; Lueleci G.; Chandrasekharappa S.C.; Collins F.S.; Jacobson S.G.; Heckenlively J.R.; Weleber R.G.; Stone E.M.; Sheffield V.C.;
Nat. Genet. 31:435-438(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT BBS1 ARG-390; Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K.; Nishimura D.Y.; Searby C.C.; Beck G.; Bugge K.; Haines H.L.; Cornier A.S.; Cox G.F.; Fulton A.B.; Carmi R.; Iannaccone A.; Jacobson S.G.; Weleber R.G.; Wright A.F.; Riise R.; Hennekam R.C.M.; Lueleci G.; Berker-Karauzum S.; Biesecker L.G.; Stone E.M.; Sheffield V.C.;
Am. J. Hum. Genet. 72:429-437(2003)
Cited for: VARIANTS BBS1 200-ILE-THR-201 DEL; ARG-390 AND PRO-518; 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: VARIANTS BBS1 ARG-35; GLU-53; ASN-148; LYS-234; SER-305; ILE-389 DEL; ARG-390; SER-434; HIS-503 AND GLN-518; Further support for digenic inheritance in Bardet-Biedl syndrome.
Fauser S.; Munz M.; Besch D.;
J. Med. Genet. 40:E104-E104(2003)
Cited for: VARIANTS BBS1 ARG-390 AND PRO-518; Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H.; Stoetzel C.; Laurier V.; Caron S.; Sigaudy S.; Sarda P.; Hamel C.; Martin-Coignard D.; Gilles M.; Leheup B.; Holder M.; Kaplan J.; Bitoun P.; Lacombe D.; Verloes A.; Bonneau D.; Perrin-Schmitt F.; Brandt C.; Besancon A.-F.; Mandel J.-L.; Cossee M.; Dollfus H.;
Eur. J. Hum. Genet. 13:607-616(2005)
Cited for: VARIANTS BBS1 GLN-160 AND ARG-390; Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S.; Ramaswami G.; Davis E.E.; Hurd T.; Airik R.; Kasanuki J.M.; Van Der Kraak L.; Allen S.J.; Beales P.L.; Katsanis N.; Otto E.A.; Hildebrandt F.;
Hum. Genet. 129:79-90(2011)
Cited for: VARIANTS VAL-206 AND LEU-245; VARIANT BBS1 ARG-390; 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 BBS1 GLN-160; THR-330; ARG-390 AND ASN-524 DEL;
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.