Variant position: 1029 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2353 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 HIEMVKGLAPLQATVWGEAD CYVQYYFPVQHSQSSVLKGPE
Mouse CVAMVKGLMPLQATVWGEAD CYVQYYFPFQDSQPSVLQGPD
Xenopus tropicalis HVENVKGLTPLQSTVWGEAD CFVQYYFPAHGPDSHT--AID
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 – 2353 C2 domain-containing protein 3
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Thauvin-Robinet C.; Lee J.S.; Lopez E.; Herranz-Perez V.; Shida T.; Franco B.; Jego L.; Ye F.; Pasquier L.; Loget P.; Gigot N.; Aral B.; Lopes C.A.; St-Onge J.; Bruel A.L.; Thevenon J.; Gonzalez-Granero S.; Alby C.; Munnich A.; Vekemans M.; Huet F.; Fry A.M.; Saunier S.; Riviere J.B.; Attie-Bitach T.; Garcia-Verdugo J.M.; Faivre L.; Megarbane A.; Nachury M.V.;
Nat. Genet. 46:905-911(2014)
Cited for: INVOLVEMENT IN OFD14; VARIANT OFD14 GLY-1029; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH OFD1;
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.