UniProtKB/SwissProt variant VAR

Rho guanine nucleotide exchange factor 9
Gene: ARHGEF9
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Variant information Variant position:

55
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Alanine (A) at position 55 (G55A, p.Gly55Ala).
Physico-chemical properties:

Change from glycine (G) to small size and hydrophobic (A)
BLOSUM score:

0
Variant description:

In DEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses.
Other resources:

Variant rs121918361 [ dbSNP | Ensembl ]

Sequence information Variant position:

55
Protein sequence length:

516
Location on the sequence:

IKVLDASNKDWWWGQIDDEE G WFPASFVRLWVNQEDEVEEG
Residue conservation:

Human                         IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEG

Mouse                         IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

Rat                           IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

Bovine                        IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43307: Variant p.Gly55Ala