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UniProtKB/Swiss-Prot O15078: Variant p.Trp7Cys

Centrosomal protein of 290 kDa
Gene: CEP290
Variant information

Variant position:  7
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Tryptophan (W) to Cysteine (C) at position 7 (W7C, p.Trp7Cys).
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 large size and aromatic (W) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In JBTS5 and SLSN6.
Any additional useful information about the variant.

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

Sequence information

Variant position:  7
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2479
The length of the canonical sequence.

Location on the sequence:   MPPNIN  W KEIMKVDPDDLPRQEELADN
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.

Human                         MPPNINWKEIMKVDPDDLPRQEELADN

Mouse                         MPPNIKWKELIKVDPDDLPRQEELADK

Zebrafish                     MPAAADWRLLMGMDPEDLGDEDEKICD

Drosophila                    IPETVSLRKFRDFS----ARQKQELYE

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 – 2479 Centrosomal protein of 290 kDa
Region 1 – 695 Self-association (with itself or C-terminus)

Literature citations

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Valente E.M.; Silhavy J.L.; Brancati F.; Barrano G.; Krishnaswami S.R.; Castori M.; Lancaster M.A.; Boltshauser E.; Boccone L.; Al-Gazali L.; Fazzi E.; Signorini S.; Louie C.M.; Bellacchio E.; Bertini E.; Dallapiccola B.; Gleeson J.G.;
Nat. Genet. 38:623-625(2006)
Cited for: VARIANT JBTS5 CYS-7;

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F.; Casteels I.; Meire F.; De Jaegere S.; Hooghe S.; van Regemorter N.; Van Esch H.; Matuleviciene A.; Nunes L.; Meersschaut V.; Walraedt S.; Standaert L.; Coucke P.; Hoeben H.; Kroes H.Y.; Vande Walle J.; de Ravel T.; Leroy B.P.; De Baere E.;
Hum. Mutat. 31:E1709-E1766(2010)

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.