GGCX L394R - GET-Evidence

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

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Curation:
Currentness:

GGCX L394R

(GGCX Leu394Arg)


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: 0.995 (probably damaging)
    Web search results (26 hits -- see all)
  • Journal of Investigative Dermatology - Pseudoxanthoma ...
    The Journal of Investigative Dermatology publishes basic and clinical research in cutaneous biology and skin disease.
    www.nature.com/jid/journal/v127/n3/full/5700610a.html
  • Vitamin K-dependent gamma-carboxylase - Homo sapiens (Human)
    Defects in GGCX are a cause of combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) ... the naturally occurring mutation L394R in human gamma-glutamyl ...
    www.uniprot.org/uniprot/P38435
  • Familial deficiency of vitamin K-dependent clotting factors
    SNP frequencies in the GGCX and VKOR genes in. several large population-based studies have ... mutations in either the GGCX or VKOR genes; the. single exception is a ...
    hemophilia.org/NHFWeb/Resource/StaticPages/menu0/menu5/...
  • Molekulargenetische Untersuchung (Gentest): Gamma-glutamyl ...
    GGCX. VKORC1. Literatur: Brenner B et al. ( 1998) A missense mutation ... of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. ...
    www.moldiag.de/de/gen/137167.htm
  • Compound heterozygosity of novel missense mutations in the ...
    2006 September 15; 108(6): 1925–1931. Prepublished online 2006 May 23. ... of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1895532
  • Blood -- Compound heterozygosity of novel missense mutations ...
    Prepublished online as a Blood First Edition Paper on May 23, 2006; DOI 10.1182 ... of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../1925
  • Blood -- Association of pharmacokinetic (CYP2C9) and ...
    Prepublished online as a Blood First Edition Paper on December 4, 2003; DOI 10. ... of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../2630
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... 647) Polymorphism (dbSNP:rs12899901) GGCX P38435 L394R 395 VAR_005781 PDGFR (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • Mendelian Inheritance in Man Document Reader
    Kuo et al. (1995) mapped the GGCX gene to chromosome 2 using human ... et al. (1998) described a leu394-to-arg (L394R) missense mutation in the GGCX gene in 4 ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+137167

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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