SIX1 Y129C - GET-Evidence

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

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Curation:
Currentness:

SIX1 Y129C

(SIX1 Tyr129Cys)


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 SIX1 gene
    Branchiootorenal Spectrum Disorders
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA23 Nonsyndromic Hearing Loss and Deafness
    SIX1-Related Branchiootorenal Spectrum Disorders
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIX1
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (13 hits -- see all)
  • SIX1 mutations cause branchio-oto-renal syndrome by ...
    In contrast, the HD mutation Y129C significantly reduced the binding activity of Six1 with MEF3. ... mutations Y129C and delE133 also markedly reduced Six1–Mef3 protein ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC419562
  • SIX1 mutation associated with enlargement of the vestibular ...
    SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome. ... CONCLUSION:: Y129C mutation in SIX1 may cause EVA as well as BO. ...
    www.ncbi.nlm.nih.gov/pubmed/16652090
  • REPORT Transcription Factor SIX5 Is Mutated in Patients with ...
    mutations in SIX1, which interacts with EYA1, were identified as an ... gous Y129C missense mutation in SIX1, with two further. mutations (delE133 and R110W) in ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • European Journal of Human Genetics - Branchio-oto-renal ...
    Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by ... (Y129C and delE133) seemed to reduce both the SIX1–DNA and EYA1–SIX1 ...
    www.nature.com/ejhg/journal/v15/n11/full/5201900a.html
  • Type II- 95%
    ... 561) AR-CGD 8286749 SIX1 Q15475 Y129C 128 VAR_031025 PKC (0.568) BOS3, crucial for EYA1-SIX1 interaction, crucial for SIX1-DNA protein-DNA binding ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • SIX1 mutations cause branchio-oto-renal syndrome by ...
    three mutations are crucial for Eya1–Six1 interaction, and the two ... SIX1 mutations (R110W, Y129C, and delE133) identified from BOR patients are ...
    segen.nichd.nih.gov/documents/8090.pdf
  • SIX1 mutation associated with enlargement of the vestibular ...
    SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome. ... CONCLUSION:: Y129C mutation in SIX1 may cause EVA as well as BO. ...
    www.medscape.com/medline/abstract/16652090?prt=true
  • CiteULike: SIX1 mutation associated with enlargement of the ...
    SIX1 mutation associated with enlargement of the vestibular aqueduct in a ... Y129C is a previously identified SIX1 mutation and was not detected in any of our 164 ...
    www.citeulike.org/user/jtomasch/article/1255701
  • WikiGenes - SIX1 - SIX homeobox 1
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/6495.html
  • Noguchi, Y (Yoshihiro)
    Y129C is a previously identified SIX1 mutation and was not detected in any of ... CONCLUSION:: Y129C mutation in SIX1 may cause EVA as well as BO. ...
    lib.bioinfo.pl/auid:1928555

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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