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:
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 NKQLEEGMKEILQAIKEMQK DPDVKGGETSLIIPSLERLVN
Mouse NKQLEEGMKEILQAIKDMPK DSDVKGGETSLIIPSLERLVN
Zebrafish NKQLEQGMKEILQAIQDTQK KTPTSTGVS---IPSLERLVN
Drosophila NETLRSGMYEILEKLREYDA TSEHITIDSDL----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
1 – 2479 Centrosomal protein of 290 kDa
1 – 695 Self-association (with itself or C-terminus)
598 – 664
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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