DFNB59 T54I - GET-Evidence

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

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Curation:
Currentness:

DFNB59 T54I

(DFNB59 Thr54Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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
 

Other external references
 

    GeneTests
  • GeneTests records for the DFNB59 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    DFNB59 Nonsyndromic Hearing Loss and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DFNB59
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (22 hits -- see all)
  • Truncating mutation of the DFNB59 gene causes cochlear ...
    Truncating mutation of the DFNB59 gene causes cochlear hearing ... The DFNB59 gene has been identified recently, and two missense mutations (p.R183W and p.T54I) have been shown ...
    www.ncbi.nlm.nih.gov/pubmed/17301963
  • Mutations in the gene encoding pejvakin, a newly identified ...
    Furthermore, Dfnb59 knock-in mice, homozygous for the R183W variant identified in one DFNB59 family, show ... R183W and T54I variants in 200 chromosomes from normal-hearing ...
    iib.uam.es/servicios/nine/cursos/percepcion_sensorial/...
  • [Sequence analysis of DFNB59 gene in a Chinese family with ...
    OBJECTIVE: To investigate if the DFNB59 gene contributes to the hearing loss of a Chinese ... to detect the presence either of mutations T54I and R183W in the exon 2 and exon ...
    www.ncbi.nlm.nih.gov/pubmed/19160860
  • بخش مدیریت نشریه
    همچنبن این اطلاعات نشان داد که جهش های T54I و R183W در ناشنوایان مورد مطالعه وجود ندارد. ... از نقش ناچیز جهش های ژن DFNB59 در ایجاد ناشنوایی در استان چهارمحال و ...
    skums.ac.ir/journal/components4.php?...
  • Génétique et physiologie cellulaire
    I.1. Un gène dont l'atteinte est à l'origine de la surdité isolée DFNB59 et ... récessive, DFNB59, nous avons décelé deux mutations faux-sens différentes (T54I et R183W) ...
    college-de-france.fr/media/.../UPL61175_cpetitcours05062.pdf
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 97%
    ... 15342699 GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ... PJVK Q0ZLH3 T54I 54 VAR_027387 CDK (0.957) MAPK (0.857) DFNB59 16804542 CNPY3 Q9BT09 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • Microsoft Word - Taherzadeh10-4
    DFNB59. 2. 4. DFNB59. 100. 2. 4. DFNB59. DNA. T54I. R183W. PCR-RFLP. AF1III. SsiI ... T54I. R183W. DFNB59. 2. 4. DFNB59. 78 (DFNB) 20. DFNA. 1. X. DFN. 7. 3. 17026. 8. DFNB59. MIM: 610219 ...
    skums.ac.ir/journal/library/.../article/Taherzadeh10-4.pdf
  • OMIM: 610219
    Dfnb59 knock-in mice homozygous for the R183W mutation showed abnormal auditory ... (DFNB59; 610220) segregated with a homozygous thr54-to-ile (T54I) ...
    www.genome.jp/dbget-bin/www_bget?omim+610219
  • Unbound MEDLINE | [Sequence analysis of DFNB59 gene in a ...
    Unbound MEDLINE | [Sequence analysis of DFNB59 gene in a Chinese family with dominantly ... to detect the presence either of mutations T54I and R183W in the exon 2 and exon ...
    unboundmedicine.com/medline/ebm/record/19160860/abstract/...

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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