UniProtKB/Swiss-Prot Q93008: Variant p.Leu2157Ile

Probable ubiquitin carboxyl-terminal hydrolase FAF-X
Gene: USP9X
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Variant information Variant position:

2157 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Isoleucine (I) at position 2157 (L2157I, p.Leu2157Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Variant description:

In XLID99; uncertain significance; 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.

Variant rs587777319 [ dbSNP | Ensembl ]

Sequence information Variant position:

2157 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2554 The length of the canonical sequence.
Location on the sequence:

FASPGPSSQAYDNLSLSDHL L RAVLNLLRREVSEHGRHLQQ 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                         FASPGPSSQAYDNLSLSDHLLRAVLNLLRREVSEHGRHLQQ

Mouse                         FASPGPSSQAYDNLSLSDHLLRAVLNLLRREVSEHGRHLQQ

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.

Type	Positions	Description
Chain	1 – 2554	Probable ubiquitin carboxyl-terminal hydrolase FAF-X
Helix	2152 – 2162

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: INVOLVEMENT IN XLID99; VARIANTS XLID99 HIS-2093 AND ILE-2157; CHARACTERIZATION OF VARIANTS XLID99 HIS-2093 AND ILE-2157; FUNCTION; INTERACTION WITH DCX; SUBCELLULAR LOCATION;

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.