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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43307: Variant p.Glu401Lys

Rho guanine nucleotide exchange factor 9
Gene: ARHGEF9
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Variant information Variant position: help 401
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 401 (E401K, p.Glu401Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help Found in a patient with moderate intellectual disability, speech delay and sleep disturbances; likely pathogenic.


Sequence information Variant position: help 401
Protein sequence length: help 516
Location on the sequence: help DDDFNVSMKNAFKLHNKETE E IHLFFAKKLEEKIRWLRAFR
Residue conservation: help
Human                         DDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR

Mouse                         DDDFNVSMKNAFKLHNKETEEVHLFFAKKLEEKIRWLRAFR

Rat                           DDDFNVSMKNAFKLHNKETEEVHLFFAKKLEEKIRWLRAFR

Bovine                        DDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 516 Rho guanine nucleotide exchange factor 9
Domain 318 – 425 PH



Literature citations
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT LYS-401;
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.