TTF1 R401Q - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

TTF1 R401Q

(TTF1 Arg401Gln)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:57pm by Genome Importing Robot.

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 @ chr9:135277007: 5.0% (541/10758) in EVS
  • T @ chr9:134266827: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (541/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr9:135277007

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr9:134266828

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr9:134266828

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr9:134266828

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr9:134266828

 

NA12878

 

NA18507

 

snp-5

 

Deleted in this revision:

snp-5

 

Other external references
 

    dbSNP
  • rs3739916
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TTF1 gene
    Benign Hereditary Chorea
    Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distre
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTF1
    PolyPhen-2
  • Score: 0.074 (benign)
    Web search results (4 hits -- see all)
  • Type III 98%
    ... kinase family Removed kinase gruop Effect Reference(s) for variant Reference(s) for phosphorylation site ... somatic mutation 16959974 TTF1 Q15361 R401Q 403 VAR_027567 PKA (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • Type III 95%
    TTF1 Q15361 R401Q 403 VAR_027567 STE20 (0.842) PKA (0.945) CK2 (0.818) PKC (0.800) CAMK2 (0.899) IKK (0.798) RSK (0.787) STE20 (0.842) PKA (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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