MYOC R76K - GET-Evidence

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

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Curation:
Currentness:

MYOC R76K

(MYOC Arg76Lys)


Short summary

 

Variant evidence
Computational -
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

  • T @ chr1:171621525: 9.6% (1037/10758) in EVS
  • T @ chr1:169888147: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 9.6% (1037/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr1:171621525

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr1:171621525

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom T @ chr1:171621525

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr1:171621525

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom T @ chr1:171621525

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:169888148

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr1:169888148

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr1:169888148

 

GS20502 - var-GS20502-1100-36-ASM
hom T @ chr1:169888148

 

Other external references
 

    dbSNP
  • rs2234926
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.985 (probably damaging)
    Web search results (46 hits -- see all)
  • Rapid mutation detection by the Transgenomic wave analyser ...
    ... myocilin gene (MYOC) and develop a new rapid screening method for MYOC mutation detection. ... and cost effective method for MYOC mutation analysis in large population samples. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1771000
  • Wang, Mol Vis 2004; 10:851-856.
    The specific MYOC promoter polymorphism (MYOC.mtl) was identified by restriction endonuclease assay. ... In the MYOC gene, the most common polymorphism R76K was not ...
    www.molvis.org/molvis/v10/a102
  • [Polymorphisms of myocilin and optineurin in primary open ...
    R76K usually occurred with the promoter polymorphism 1-83G > A. No sequence alterations in the MYOC gene ... CONCLUSION: Polymorphisms in the MYOC and OPTN genes are associated ...
    molecularstation.com/research/polymorphisms-of-myocilin-a...
  • Yuan, Mol Vis 2007; 13:2083-2095.
    Mutations of MYOC have been implicated in at least two types of inherited open ... suppression of MYOC, we constructed pH1 plasmids to produce MYOC-specific shRNAs ...
    www.molvis.org/molvis/v13/a236
  • Absence of myocilin and optineurin mutations in a large ...
    The specific MYOC promoter polymorphism (MYOC.mtl) was identified by restriction endonuclease assay. ... 80G->A, -1000G->C, R76K) in MYOC and four polymorphisms (T34T, M98K, ...
    www.ncbi.nlm.nih.gov/pubmed/15547491
  • Variants of the Myocilin Gene in Japanese Patients with ...
    The prevalence of MYOC mutations was determined in 80 Japanese NTG patients and ... The frequency of other sequence changes (R76K, D208E, and 3' non-coding) in NTG ...
    content.karger.com/ProdukteDB/produkte.asp?Doi=74075
  • The cytotoxic and stress responses of human trabecular ...
    The specific MYOC promoter polymorphism (MYOC.mtl) was identified by restriction ... 80G->A,-1000G->C, R76K) in MYOC and four polymorphisms (T34T, M98K, ...
    lib.bioinfo.pl/pmid:18253094
  • A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open ...
    POAG genes, MYOC is established as directly glaucoma caus- ative, whereas the role of ... MYOC ( 83G. 3 A, R76K, and IVS2 35A3 G), five polymorphisms in. OPTN ...
    www.iovs.org/cgi/reprint/47/12/5315.pdf
  • A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open ...
    MYOC, OPTN, and WDR36 were screened for sequence alterations by PCR and direct ... Only three polymorphisms in MYOC (–83GA, R76K, and IVS2+35AG), five ...
    www.iovs.org/cgi/content/full/47/12/5315
  • Transcription Factor TFIIIA :: genetics
    The specific MYOC promoter polymorphism (MYOC.mtl) was identified by restriction ... polymorphisms (-80G->A,-1000G->C, R76K) in MYOC and four polymorphisms (T34T, M98K, R545Q, ...
    lib.bioinfo.pl/meid:15328

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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