Variant position: 944 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1056 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 GTTPQRKSYLYPSTLVRTEP REHLLDQLKRKQPELLMMLNC
Mouse GMTPERKKYLYPTTLVRTEP REQLLDQLQKKQPPMMLNSSE
Xenopus tropicalis GTTPQRRDYVYPSLLVRTKP RDVLLEQFRQQQQEYLESISS
Slime mold -------------------- KDEKISSLESKLRDILLKFKQ
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 – 1056 Kinesin-like protein KIF11
925 – 925 Phosphothreonine
926 – 926 Phosphothreonine; by CDK1
926 – 926 T -> A. No mitotic phosphorylation. No binding to spindle apparatus.
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P.; Simpson M.A.; Mendola A.; Vasudevan P.; Connell F.C.; van Impel A.; Moore A.T.; Loeys B.L.; Ghalamkarpour A.; Onoufriadis A.; Martinez-Corral I.; Devery S.; Leroy J.G.; van Laer L.; Singer A.; Bialer M.G.; McEntagart M.; Quarrell O.; Brice G.; Trembath R.C.; Schulte-Merker S.; Makinen T.; Vikkula M.; Mortimer P.S.; Mansour S.; Jeffery S.;
Am. J. Hum. Genet. 90:356-362(2012)
Cited for: VARIANTS MCLMR LEU-144; CYS-234; CYS-235 AND CYS-944;
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