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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43307: Variant p.Gly55Ala

Rho guanine nucleotide exchange factor 9
Gene: ARHGEF9
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Variant information Variant position: help 55
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Alanine (A) at position 55 (G55A, p.Gly55Ala).
Physico-chemical properties: help Change from glycine (G) to small size and hydrophobic (A)
BLOSUM score: help 0
Variant description: help In DEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses.
Other resources: help


Sequence information Variant position: help 55
Protein sequence length: help 516
Location on the sequence: help IKVLDASNKDWWWGQIDDEE G WFPASFVRLWVNQEDEVEEG
Residue conservation: help
Human                         IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEG

Mouse                         IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

Rat                           IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

Bovine                        IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 516 Rho guanine nucleotide exchange factor 9
Domain 8 – 67 SH3
Alternative sequence 1 – 102 Missing. In isoform 3.
Alternative sequence 11 – 63 Missing. In isoform 2.
Beta strand 54 – 58



Literature citations
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
Harvey K.; Duguid I.C.; Alldred M.J.; Beatty S.E.; Ward H.; Keep N.H.; Lingenfelter S.E.; Pearce B.R.; Lundgren J.; Owen M.J.; Smart T.G.; Luescher B.; Rees M.I.; Harvey R.J.;
J. Neurosci. 24:5816-5826(2004)
Cited for: VARIANT DEE8 ALA-55; CHARACTERIZATION OF VARIANT DEE8 ALA-55; ALTERNATIVE SPLICING;
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.