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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96RK4: Variant p.Glu412Asp

Bardet-Biedl syndrome 4 protein
Gene: BBS4
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Variant information Variant position: help 412 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Glutamate (E) to Aspartate (D) at position 412 (E412D, p.Glu412Asp). 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 Similar physico-chemical property. Both residues are medium size and acidic. 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 a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 412 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 519 The length of the canonical sequence.
Location on the sequence: help LAQYQEMEKKVSLLKDNSSL E FDSEMVEMAQKLGAALQVGE 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                         LAQYQEMEKKVSLLKDNSSLEFDSEMVEMAQKLGAALQVGE

Mouse                         LAQYQEMEKKVNFLKDNSPLEFDSEMVEMAQKLGAALQVGE

Bovine                        LAQYQEMEKKVNLLKYSSSLEFDPEMVEVAQKLGAALQVGE

Xenopus tropicalis            LGQYQELERKVSALRETST-EFDPEMVDMAQKLGAALQVGE

Caenorhabditis elegans        LKLYKDLQ--------ASGVKCSANNKETANLLESVLKQ--

Drosophila                    TEQYNRFMSQAQDLLLPTEYKFQ------ATKLKSLLRI--

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 – 519 Bardet-Biedl syndrome 4 protein
Region 338 – 519 Required for localization to centrosomes



Literature citations
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 ARG-46; LYS-61; ASP-412 AND LYS-488;
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.