UniProtKB/Swiss-Prot O15078: Variant p.Asp664Gly

Centrosomal protein of 290 kDa
Gene: CEP290
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Variant information Variant position:

664 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Aspartate (D) to Glycine (G) at position 664 (D664G, p.Asp664Gly). 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 acidic (D) to glycine (G) 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.

Variant rs79705698 [ dbSNP | Ensembl ]

Sequence information Variant position:

664 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:

NKQLEEGMKEILQAIKEMQK D PDVKGGETSLIIPSLERLVN 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                         NKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVN

Mouse                         NKQLEEGMKEILQAIKDMPKDSDVKGGETSLIIPSLERLVN

Zebrafish                     NKQLEQGMKEILQAIQDTQKKTPTSTGVS---IPSLERLVN

Drosophila                    NETLRSGMYEILEKLREYDATSEHITIDSDL----LRRLIE

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.

Type	Positions	Description
Chain	1 – 2479	Centrosomal protein of 290 kDa
Region	1 – 695	Self-association (with itself or C-terminus)
Coiled coil	598 – 664

Literature citations
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Brancati F.; Barrano G.; Silhavy J.L.; Marsh S.E.; Travaglini L.; Bielas S.L.; Amorini M.; Zablocka D.; Kayserili H.; Al-Gazali L.; Bertini E.; Boltshauser E.; D'Hooghe M.; Fazzi E.; Fenerci E.Y.; Hennekam R.C.; Kiss A.; Lees M.M.; Marco E.; Phadke S.R.; Rigoli L.; Romano S.; Salpietro C.D.; Sherr E.H.; Signorini S.; Stromme P.; Stuart B.; Sztriha L.; Viskochil D.H.; Yuksel A.; Dallapiccola B.; Valente E.M.; Gleeson J.G.;
Am. J. Hum. Genet. 81:104-113(2007)
Cited for: VARIANTS GLN-277; GLY-664; GLU-838; TRP-906 AND LYS-2228; Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.
Helou J.; Otto E.A.; Attanasio M.; Allen S.J.; Parisi M.A.; Glass I.; Utsch B.; Hashmi S.; Fazzi E.; Omran H.; O'Toole J.F.; Sayer J.A.; Hildebrandt F.;
J. Med. Genet. 44:657-663(2007)
Cited for: VARIANT GLY-664;

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