USH1C E519D - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

USH1C E519D

(USH1C Glu519Asp)


Short summary

 

Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.07);
PolyPhen=benign(0.044);
Condel=deleterious(0.801)
Mutation Tasting Prediction: Polymorphism p value: 0.965235; protein features (might be) affected (Detail: aa 452-537 DOMAIN PDZ 3 gets lost)
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 44.60; Class C35
Multi-alignment of Q9Y6N9.3 harmonin isoform a [Homo sapiens] with: NP_001126221.1 [Pongo abelii] XP_001085522.2 [Macaca mulatta] AAG12457.1 [Mus musculus] NP_076138.2 [Mus musculus] NP_997686.2 [Rattus norvegicus] XP_001918264.1 [Equus caballus] AAT00379.1 [Rattus norvegicus] DAA22239.1 [Bos taurus] NP_001030459.1 [Bos taurus] XP_852180.1 [Canis familiaris]

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het G @ chr11:17476318

 

Other external references
 

    GeneTests
  • GeneTests records for the USH1C gene
    DFNB18 Nonsyndromic Hearing Loss and Deafness
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    Usher Syndrome Type 1
    Usher Syndrome Type 1C
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH1C
    Web search results (10 hits -- see all)
  • Identification of three novel mutations in the USH1C gene and ...
    Recently, the USH1C gene was shown to encode harmonin, a PDZ domain-containing protein. ... detected in the USH1C gene. We observed that the E519D substitution is non-pathogenic, ...
    www.ncbi.nlm.nih.gov/pubmed/11139240
  • WikiGenes -
    The world's first wiki where authorship really matters. Due credit and reputation for ... detected in the USH1C gene. We observed that the E519D substitution is non-pathogenic, ...
    www.wikigenes.org/e/ref/e/11139240.html
  • Identification of three novel mutations in the USH1C gene and ...
    Usher syndrome (USH) is a clinically and genetically heterogeneous autosomal recessive disorder in which sensorineural hearing loss is associated with retinitis pigmentosa.
    www.medscape.com/medline/abstract/11139240
  • Retinitis Pigmentosa :: congenital
    A complete USH1C mutation screening in these four carriers of the 238-239insC mutation ... detected in the USH1C gene. We observed that the E519D substitution is non-pathogenic, ...
    lib.bioinfo.pl/meid:74153

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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