TBX22 E187K - 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:

TBX22 E187K

(TBX22 Glu187Lys)


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

  • A @ chrX:79281202: 4.6% (402/8761) in EVS
  • A @ chrX:79167857: 6.5% (6/92) in GET-Evidence
  • Frequency shown in summary reports: 4.6% (402/8761)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chrX:79281202

 

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chrX:79167858

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chrX:79167858

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chrX:79167858

 

Other external references
 

    dbSNP
  • rs34244923
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.993 (probably damaging)
    Web search results (3 hits -- see all)
  • TBX22 Missense Mutations Found in Patients with X-Linked ...
    TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate ... As expected, wild-type TBX22 and the polymorphic E187K variant demonstrated similar repressor activity, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2227921/?tool=pmcentrez
  • Cancer Genome Project Data
    p.E187K(1) Insertions. Position. Mutation(n) No Insertions in Current ... No Fusion Mutations in Current Selection. Other Mutations. Position. Mutation(n) No Other ...
    sanger.ac.uk/perl/genetics/CGP/cgp_viewer?...
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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