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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P52732: Variant p.Arg234Cys

Kinesin-like protein KIF11
Gene: KIF11
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Variant information Variant position: help 234
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 234 (R234C, p.Arg234Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In MCLMR.


Sequence information Variant position: help 234
Protein sequence length: help 1056
Location on the sequence: help LEKGAAKRTTAATLMNAYSS R SHSVFSVTIHMKETTIDGEE
Residue conservation: help 
Human                         LEKGAAKRTTAATLMNAYSSRSHSVFSVTIHMKETTIDG------EE

Mouse                         LEKGAAKRTTAATLMNAYSSRSHSVFSVTIHMKETTIDG--

Xenopus tropicalis            LERGAARRKTASTLMNAYSSRSHSVFSVTIHMKETTVDG--

Slime mold                    ISAGEAHRHVGSTSYNLQSSRSHTIFKMIIESKEVLPEGSG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1056 Kinesin-like protein KIF11
Domain 18 – 359 Kinesin motor



Literature citations
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;
Disclaimer: 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.