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UniProtKB/Swiss-Prot Q8NFJ9: Variant p.Met390Arg

Bardet-Biedl syndrome 1 protein
Gene: BBS1
Variant information

Variant position:  390
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  -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

Involvement in disease:  Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:12118255, ECO:0000269|PubMed:12524598, ECO:0000269|PubMed:12567324, ECO:0000269|PubMed:12677556, ECO:0000269|PubMed:12920096, ECO:0000269|PubMed:15770229, ECO:0000269|PubMed:21052717, ECO:0000269|PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In BBS1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  390
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  593
The length of the canonical 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.




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.

Chain 2 – 593 Bardet-Biedl syndrome 1 protein

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)

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.