Variant position: 234 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 LEKGAAKRTTAATLMNAYSS RSHSVFSVTIHMKETTIDG------EE
Mouse LEKGAAKRTTAATLMNAYSS RSHSVFSVTIHMKETTIDG--
Xenopus tropicalis LERGAARRKTASTLMNAYSS RSHSVFSVTIHMKETTVDG--
Slime mold ISAGEAHRHVGSTSYNLQSS RSHTIFKMIIESKEVLPEGSG
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
18 – 359 Kinesin motor
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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