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UniProtKB/Swiss-Prot Q6NXG1: Variant p.Leu259Val

Epithelial splicing regulatory protein 1
Gene: ESRP1
Variant information

Variant position:  259
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 Valine (V) at position 259 (L259V, p.Leu259Val).
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:  1
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:  Deafness, autosomal recessive, 109 (DFNB109) [MIM:618013]: A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement. {ECO:0000269|PubMed:29107558}. 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 DFNB109; hypomorphic mutation affecting alternative splicing in patient-derived induced pluripotent stem cells and other cell-based assays.
Any additional useful information about the variant.

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



Sequence information

Variant position:  259
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  681
The length of the canonical sequence.

Location on the sequence:   QDIARFFKGLNIAKGGAALC  L NAQGRRNGEALVRFVSEEHR
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                         QDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHR

Mouse                         QDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHR

Rat                           QDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHR

Xenopus laevis                QDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHR

Xenopus tropicalis            QDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHR

Zebrafish                     QDIARFFRGLNIAKGGAALCLNAQGRRNGEALVRFESEEHR

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 – 681 Epithelial splicing regulatory protein 1
Domain 225 – 302 RRM 1


Literature citations

ESRP1 mutations cause hearing loss due to defects in alternative splicing that disrupt cochlear development.
Rohacek A.M.; Bebee T.W.; Tilton R.K.; Radens C.M.; McDermott-Roe C.; Peart N.; Kaur M.; Zaykaner M.; Cieply B.; Musunuru K.; Barash Y.; Germiller J.A.; Krantz I.D.; Carstens R.P.; Epstein D.J.;
Dev. Cell 43:318-331(2017)
Cited for: INVOLVEMENT IN DFNB109; VARIANT DFNB109 VAL-259; CHARACTERIZATION OF VARIANT DFNB109 VAL-259;

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.