MUSK S159G - GET-Evidence

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

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Curation:
Currentness:

MUSK S159G

(MUSK Ser159Gly)


Short summary

 

Variant evidence
Computational 1

GVGD: GV 95.08; GD 29.56; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.21);
PolyPhen=benign(0);
Condel=deleterious(0.786)
Mutation Tasting prediction: Polymorphism p value: 0.999350; Protein features (might be) affected (TOPO_DOMAIN Extracellular (Potential) gets lost)

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

  • G @ chr9:113457799: 11.7% (1110/9468) in EVS
  • G @ chr9:112497619: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 11.7% (1110/9468)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr9:113457799

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr9:113457799

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr9:113457799

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr9:113457799

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom G @ chr9:113457799

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr9:113457799

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr9:113457799

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr9:113457799

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr9:113457799

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr9:113457799

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr9:113457799

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr9:113457799

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr9:112497620

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr9:112497620

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr9:112497620

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr9:112497620

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr9:112497620

 

Other external references
 

    dbSNP
  • rs35176182
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (3 hits -- see all)
  • Analyse des MUSK- und des COLQ-Gens bei Patienten mit ...
    MuSK ist eine muskelspezifische Rezeptor-Tyrosinkinase, die eine wichtige Rolle ... heterozygoten Polymorphismus S159G, bei dem Adenosin durch Guanin ersetzt wird. ...
    edoc.ub.uni-muenchen.de/7858/1/Petrova_Sofia.pdf
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... Polymorphism (dbSNP:rs5924658) SALL1 Q9NSC2 S159G 155 VAR_013157 GSK (0.984) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... cancer sample, somatic mutation 16959974 MUSK O15146 V790M 788 VAR_023046 PDGFR ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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