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UniProtKB/Swiss-Prot O43307: Variant p.Gly55Ala

Rho guanine nucleotide exchange factor 9
Gene: ARHGEF9
Chromosomal location: Xq11.1
Variant information

Variant position:  55
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Alanine (A) at position 55 (G55A, p.Gly55Ala).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607]: A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. {ECO:0000269|PubMed:15215304, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:25678704}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In EIEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  55
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  516
The length of the canonical sequence.

Location on the sequence:   IKVLDASNKDWWWGQIDDEE  G WFPASFVRLWVNQEDEVEEG
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                         IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEG

Mouse                         IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

Rat                           IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

Bovine                        IKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDGVEEG

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.

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 EIEE8 ALA-55; CHARACTERIZATION OF VARIANT EIEE8 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.