PINK1 R279H - GET-Evidence

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

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Curation:
Currentness:

PINK1 R279H

(PINK1 Arg279His)


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
 

    PolyPhen-2
  • Score: 0.912 (probably damaging)
    Web search results (15 hits -- see all)
  • Analysis of PARK Gene Mutations in Early-Onset Parkinson's ...
    Yun J. Kim, Myung-Soo Woo, Jung-Mi Choi, Anyang, Gyonggi-do, Korea ... with PINK1 mutations; three heterozygous mutations (G32R, R279H, F385L), and a compound ...
    www.abstracts2view.com/aan2007boston/html/P07.143.html
  • European Journal of Human Genetics - PINK1, Parkin, and DJ-1 ...
    The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short ...
    www.nature.com/ejhg/journal/v13/n9/full/5201455a.html
  • CiteULike: Analysis of PARK genes in a Korean cohort of early ...
    Four patients had PINK1 mutations; a compound heterozygous mutation (N367S and K520RfsX522) and three heterozygous mutations (G32R, R279H, and F385L) ...
    www.citeulike.org/article/3626241
  • OMIM: 608309
    Immunogold microscopy demonstrated that PINK1 faced the mitochondrial intermembrane space. ... the PINK1 gene, resulting in an arg279-to-his (R279H) substitution in ...
    www.genome.jp/dbget-bin/www_bget?omim+608309
  • Sahashi et al. Supplementary Table 1, Page 1
    PINK1. 2. R147H (g.4346G>A) 2. A168P (g.4408G>C) 2. P196L (g.4493C>T) 3. E231G (g.6360A>G) 3 ... R279H (g.11001G>A) 4. P296P (g.11053T>G) 4. G309D (g.11091G>A) 4. L316L ...
    nar.oxfordjournals.org/cgi/data/gkm647v1/DC1/1
  • 2006년 한국노화학회 추계 학술대회
    주 관 : 한국노화학회. 한림대학교 일송생명과학연구소. 주 최 : 보건복지부지정 노화기전연구 및 노화억제물질개발센터. 발표연자 : Naoki Maruyama, M.D., Ph.D. (Tokyo Metropolitan Institute of Gerontology) ...
    korea-biogerontology.org/abstract_061215.pdf
  • "Sung YH "[Author] の検索結果 - ATGC論文チェッカー|Pubmed(パブメド)の論文検索をスムーズ ...
    Four patients had PINK1 mutations; a compound heterozygous mutation (N367S and K520RfsX522) and three heterozygous mutations (G32R, R279H, and F385L) ...
    www.atgcchecker.com/search/?search="Sung+YH+"[Author]
  • Analysis of PARK genes in a Korean cohort of early-onset ...
    Four patients had PINK1 mutations; a compound heterozygous mutation (N367S and K520RfsX522) and three heterozygous mutations (G32R, R279H, and F385L) ...
    www.ncbi.nlm.nih.gov/pubmed/18704525
  • Park, M (Mee)
    Four patients had PINK1 mutations; a compound heterozygous mutation (N367S and K520RfsX522) and three heterozygous mutations (G32R, R279H, and F385L) ...
    lib.bioinfo.pl/auid:8619964
  • OMIM 608309 - Chinasi putativa indotta da PTEN; PINK1
    Valente ed altri (2004) determinarono che la PINK1 gene codifica a 581-aminoacidi proteina. ... 4 del PINK1 gene, provocante una arg279-to-his (R279H) sostituzione nel ...
    www.fonama.org/i_omim/mito6/i_608309.html

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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