Variant position: 1235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1338 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 TTHTTYPEGLEVLHFSSGQI EKHYPDGRKEITFPDQTVKNL
Chimpanzee TTHTTYPEGLEVLHFSSGQI EKHYPDGRKEITFPDQTVKNL
Mouse TTHTTYPEGLEVLHFSSGQI EKHFPDGRKEITFPDQTIKTL
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 – 1338 Centromere protein J
895 – 1338 Interaction with STIL
1087 – 1338 Missing. In isoform 2.
The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation.
Tang C.J.; Lin S.Y.; Hsu W.B.; Lin Y.N.; Wu C.T.; Lin Y.C.; Chang C.W.; Wu K.S.; Tang T.K.;
EMBO J. 30:4790-4804(2011)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH STIL; FORMATION OF A COMPLEX WITH STIL AND SASS8; CHARACTERIZATION OF VARIANT MCPH6 VAL-1235;
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Bond J.; Roberts E.; Springell K.; Lizarraga S.B.; Scott S.; Higgins J.; Hampshire D.J.; Morrison E.E.; Leal G.F.; Silva E.O.; Costa S.M.R.; Baralle D.; Raponi M.; Karbani G.; Rashid Y.; Jafri H.; Bennett C.; Corry P.; Walsh C.A.; Woods C.G.;
Nat. Genet. 37:353-355(2005)
Cited for: VARIANT MCPH6 VAL-1235;
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.