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UniProtKB/Swiss-Prot Q93008: Variant p.Leu2093His

Probable ubiquitin carboxyl-terminal hydrolase FAF-X
Gene: USP9X
Chromosomal location: Xp11.4
Variant information

Variant position:  2093
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 Leucine (L) to Histidine (H) at position 2093 (L2093H, p.Leu2093His).
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 medium size and hydrophobic (L) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  Mental retardation, X-linked 99 (MRX99) [MIM:300919]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:24607389}. 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 MRX99; does not affect interaction with DCX; reduced subcellular localization in the axonal growth cones.
Any additional useful information about the variant.

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



Sequence information

Variant position:  2093
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2570
The length of the canonical sequence.

Location on the sequence:   ALCILLRHSKNVRFWFAHNV  L FNVSNRFSEYLLECPSAEVR
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                         ALCILLRHSKNVRFWFAHNVLFNVSNRFSEYLLECPSAEVR

Mouse                         ALCILLRHSKNVRFWFAHNVLFNVSNRFSEYLLECPSAEVR

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 – 2570 Probable ubiquitin carboxyl-terminal hydrolase FAF-X


Literature citations

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
Homan C.C.; Kumar R.; Nguyen L.S.; Haan E.; Raymond F.L.; Abidi F.; Raynaud M.; Schwartz C.E.; Wood S.A.; Gecz J.; Jolly L.A.;
Am. J. Hum. Genet. 94:470-478(2014)
Cited for: FUNCTION; INTERACTION WITH DCX; SUBCELLULAR LOCATION; VARIANTS MRX99 HIS-2093 AND ILE-2157; CHARACTERIZATION OF VARIANTS MRX99 HIS-2093 AND ILE-2157;

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.