F9 T194A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

F9 T194A

(F9 Thr194Ala)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.002
SIFT: Tolerated 0.06
GVGD: GV 89.28; GD 30.40; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.71);
PolyPhen=benign(0.002);
Condel=neutral(0.070)
Mutation Tasting Prediction: Polymorphism, P value: 0.930505; protein features (might be) affected (aa 191-192 SITE Cleavage; by factor Xia gets lost; aa 192-226 PROPEP Activation peptide. /FTId=PRO_0000027758 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 @ chrX:138633280: 23.3% (2042/8761) in EVS
  • G @ chrX:138460945: 15.2% (14/92) in GET-Evidence
  • Frequency shown in summary reports: 23.3% (2042/8761)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chrX:138633280

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chrX:138633280

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chrX:138633280

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom G @ chrX:138633280

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom G @ chrX:138633280

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom G @ chrX:138633280

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chrX:138633280

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chrX:138633280

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chrX:138633280

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chrX:138633280

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chrX:138633280

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom G @ chrX:138633280

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chrX:138633280

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom G @ chrX:138633280

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chrX:138460946

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chrX:138460946

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chrX:138460946

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chrX:138460946

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chrX:138460946

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chrX:138460946

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chrX:138460946

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chrX:138460946

 

Other external references
 

    dbSNP
  • rs6048
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.006 (benign)
    Web search results (6 hits -- see all)
  • AceView: Gene:F9, a comprehensive annotation of human, mouse ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=F9
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... (0.522) SLOS 10995508 10677299 F9 P00740 S169C 169 VAR_017350 CAMK2 (0. ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 98
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... rs12618071) F9 P00740 S411G 411 VAR_017320 IKK (0.741) HEMB, Varel 1346975 GPR56 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_98.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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