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UniProtKB/Swiss-Prot Q6ZW61: Variant p.Ile39Thr

Bardet-Biedl syndrome 12 protein
Gene: BBS12
Variant information

Variant position:  39
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Isoleucine (I) to Threonine (T) at position 39 (I39T, p.Ile39Thr).
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 (I) to medium size and polar (T)
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

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

Sequence information

Variant position:  39
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  710
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 1 – 710 Bardet-Biedl syndrome 12 protein

Literature citations

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Stoetzel C.; Muller J.; Laurier V.; Davis E.E.; Zaghloul N.A.; Vicaire S.; Jacquelin C.; Plewniak F.; Leitch C.C.; Sarda P.; Hamel C.; de Ravel T.J.; Lewis R.A.; Friederich E.; Thibault C.; Danse J.-M.; Verloes A.; Bonneau D.; Katsanis N.; Poch O.; Mandel J.-L.; Dollfus H.;
Am. J. Hum. Genet. 80:1-11(2007)
Cited for: VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND VAL-540; VARIANTS THR-39 AND VAL-170;

Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes.
Hjortshoj T.D.; Gronskov K.; Philp A.R.; Nishimura D.Y.; Riise R.; Sheffield V.C.; Rosenberg T.; Brondum-Nielsen K.;
Hum. Mutat. 31:429-436(2010)
Cited for: VARIANT BBS12 511-GLN--GLN-513 DEL; VARIANTS THR-39; ARG-408 AND CYS-524;

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 THR-39; SER-119 AND HIS-263; VARIANTS BBS12 ARG-88; GLU-293; GLN-355; MET-400; MET-501; HIS-525; ASP-539 AND CYS-674;

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.