Variant position: 1096 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1620 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 KHAASPSTYSPTHNADYPLG QVLVRPFVEVSFQRTVCHTTT
Mouse KQTASPSTHSPLHNADYPLG QVLVRPFVEVSFQRTICHTTT
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 – 1620 Coiled-coil and C2 domain-containing protein 2A
1062 – 1174 C2
112 – 1620 Missing. In isoform 4.
123 – 1620 Missing. In isoform 3.
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden N.T.; Arts H.H.; Parisi M.A.; Coene K.L.M.; Letteboer S.J.F.; van Beersum S.E.C.; Mans D.A.; Hikida A.; Eckert M.; Knutzen D.; Alswaid A.F.; Oezyurek H.; Dibooglu S.; Otto E.A.; Liu Y.; Davis E.E.; Hutter C.M.; Bammler T.K.; Farin F.M.; Dorschner M.; Topcu M.; Zackai E.H.; Rosenthal P.; Owens K.N.; Katsanis N.; Vincent J.B.; Hildebrandt F.; Rubel E.W.; Raible D.W.; Knoers N.V.A.M.; Chance P.F.; Roepman R.; Moens C.B.; Glass I.A.; Doherty D.;
Am. J. Hum. Genet. 83:559-571(2008)
Cited for: VARIANTS JBTS9 HIS-1096; SER-1122; CYS-1528 AND PRO-1551; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INTERACTION WITH CEP290;
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.