NPHS1 E117K - GET-Evidence

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

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Curation:
Currentness:

NPHS1 E117K

(NPHS1 Glu117Lys)


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 @ chr19:36342212: 22.7% (2443/10758) in EVS
  • T @ chr19:41034051: 25.8% (33/128) in GET-Evidence
  • Frequency shown in summary reports: 22.7% (2443/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr19:36342212

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr19:36342212

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr19:36342212

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr19:36342212

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr19:36342212

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr19:36342212

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr19:36342212

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr19:36342212

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr19:36342212

 

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr19:36342212

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr19:36342212

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr19:36342212

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr19:36342212

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr19:36342212

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr19:36342212

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr19:36342212

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr19:36342212

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr19:41034052

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr19:41034052

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr19:41034052

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr19:41034052

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr19:41034052

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr19:41034052

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr19:41034052

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr19:41034052

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr19:41034052

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr19:41034052

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chr19:41034052

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr19:41034052

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chr19:41034052

 

GS20502 - var-GS20502-1100-36-ASM
hom T @ chr19:41034052

 

Other external references
 

    dbSNP
  • rs3814995
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.997 (probably damaging)
    Web search results (10 hits -- see all)
  • Defective nephrin trafficking caused by missense mutations in ...
    The disease gene (NPHS1) encodes nephrin, a podocyte transmembrane protein that is an ... Recently, the causative gene for NPHS1 was cloned and shown to encode ...
    hmg.oxfordjournals.org/cgi/content/full/10/23/2637
  • NEPHRIN
    type (CNF, NPHS1) begins already before birth. Intrauterine protein ... (AFP) levels in amniotic fluid, which is used in the prenatal diagnosis of NPHS1. ...
    ethesis.helsinki.fi/julkaisut/laa/.../patrakka/nephrinr.pdf
  • Biological Research - A pilot study on genetic variation in ...
    NPHS1 codes for nephrin, a protein that is expressed mainly in the kidney ... the three non-synonymous polymorphisms (E117K, R408Q and N1077S searched for an ...
    scielo.cl/scielo.php?...&lng=es&nrm=iso&tlng=es
  • Nephrin – mutations in Congenital Nephrotic Syndrome of the ...
    The NPHS1 gene codes for a transmembrane protein of the Ig super family, called ... 349 (E117K on protein level), has been shown to modify the clinical ...
    diss.kib.ki.se/2005/91-7140-351-5/thesis.pdf
  • 中国人先天性肾病综合征NPHS1基因突变
    中国人先天性肾病综合征NPHS1基因突变 ... 同时还在先证者发现了4 种碱基变异: E117K (rs3814995)、S1105S(rs2071327)、IVS27+45c>t和IVS8+68 a>g,经比对前3种均为单核苷酸多态性,位于内含子内的变异(IVS8+68 a>g)意义有待进一步研究。 ...
    www.51qe.cn/med/kydt/49692.html
  • 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
  • [NPHS1 mutations in a Chinese family with congenital ...
    OBJECTIVE: Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age.
    www.medscape.com/medline/abstract/16316524?prt=true
  • A pilot study on genetic variation in purine-rich elements in ...
    synonymous polymorphisms (E117K, R408Q and N1077S searched for an ... to insulin in the NPHS1 promoter region. In this work we identified a purine-rich. GAGA ...
    www.scielo.cl/pdf/bres/v40n3/art10.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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