Variant position: 1447 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 LKNVGCLIGPDNIWFNIQRY ESPLRINFDVTRPKLWKSFFS
Mouse LKSVGCLIGPDNIWFNIQHH DSPLRINFDVTKPKLWKSFFS
Drosophila LRRIYCVVGKQNIYFNIQTE TRVSMTHFNLQDGACWFPLFR
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
112 – 1620 Missing. In isoform 4.
123 – 1620 Missing. In isoform 3.
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee J.E.; Silhavy J.L.; Zaki M.S.; Schroth J.; Bielas S.L.; Marsh S.E.; Olvera J.; Brancati F.; Iannicelli M.; Ikegami K.; Schlossman A.M.; Merriman B.; Attie-Bitach T.; Logan C.V.; Glass I.A.; Cluckey A.; Louie C.M.; Lee J.H.; Raynes H.R.; Rapin I.; Castroviejo I.P.; Setou M.; Barbot C.; Boltshauser E.; Nelson S.F.; Hildebrandt F.; Johnson C.A.; Doherty D.A.; Valente E.M.; Gleeson J.G.;
Nat. Genet. 44:193-199(2012)
Cited for: VARIANT JBTS9 ALA-1447;
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