TPO S398T - 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.

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Curation:
Currentness:

TPO S398T

(TPO Ser398Thr)


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

  • C @ chr2:1481231: 78.5% (5319/6780) in EVS
  • C @ chr2:1460237: 53.6% (15/28) in GET-Evidence
  • Frequency shown in summary reports: 78.5% (5319/6780)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr2:1460238

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr2:1460238

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr2:1460238

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr2:1460238

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr2:1460238

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr2:1460238

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr2:1460238

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr2:1460238

 

NA19240

 

Other external references
 

    dbSNP
  • rs2175977
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.988 (probably damaging)
    Web search results (6 hits -- see all)
  • High prevalence of thyroid peroxidase gene mutations in ...
    Mutational analysis of the TPO gene and part of its promoter consisted of single ... TPO gene mutations are also infrequently reported in patients with milder ...
    www.eje-online.org/cgi/content/full/156/5/511
  • Type I- 99%
    ... 9524131 MUT P22033 S306F 306 VAR_026608 STE20 (0.964) MMA, mut0 16281286 MYPN ... 12872255 TPO P07202 S398T 398 VAR_006059 PKC (0.939) Polymorphism (dbSNP: ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 98
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... position 238 8554050 NUP93 Q8N1F7 S509R 509 VAR_028160 CAMKL (0.700) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_98.txt
  • High prevalence of thyroid peroxidase gene mutations in ...
    Thyroid peroxidase gene (TPO) mutations are one of the most common causes of ... results showed a higher prevalence of TPO gene mutations in thyroid ...
    www.eje-online.org/cgi/reprint/156/5/511.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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