TPO T725P - 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)

TPO T725P

(TPO Thr725Pro)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:18am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(1);
PolyPhen=benign(0);
Condel=not_computable_was(-1)
Mutation Tasting Prediction: Polymorphism p value: 0.999801; protein features (might be) affected (Detail: aa 15-846 TOPO_DOMAIN Extracellular (potential) gets lost)
GVGD: GV 37.56; GD 0.00; Class C0
Multi-alignment of P07202.4 thyroid peroxidase isoform a precursor [Homo sapiens] with: XP_003278843.1 [Nomascus leucogenys] XP_002758108.1 [Callithrix jacchus] XP_001117795.1 [Macaca mulatta] XP_002812386.1 [Pongo abelii] EDM03234.1 [Rattus norvegicus] NP_062226.1 [Rattus norvegicus] XP_002758109.1 [Callithrix jacchus] EDL36934.1 [Mus musculus] NP_033443.1 [Mus musculus] BAC33171.1 [Mus musculus]

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 @ chr2:1499927: 47.0% (5052/10758) in EVS
  • C @ chr2:1478933: 49.2% (61/124) in GET-Evidence
  • Frequency shown in summary reports: 47.0% (5052/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr2:1499927

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr2:1499927

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr2:1499927

 

 

Added in this revision:

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr2:1499927

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr2:1499927

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr2:1499927

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr2:1499927

 

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr2:1478934

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr2:1478934

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr2:1478934

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr2:1478934

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr2:1478934

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr2:1478934

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr2:1478934

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr2:1478934

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr2:1478934

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr2:1478934

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr2:1478934

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr2:1478934

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr2:1478934

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr2:1478934

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr2:1478934

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr2:1478934

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr2:1478934

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr2:1478934

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr2:1478934

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr2:1478934

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr2:1478934

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr2:1478934

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr2:1478934

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr2:1478934

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr2:1478934

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr2:1478934

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr2:1478934

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr2:1478934

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr2:1478934

 

Other external references
 

    dbSNP
  • rs732609
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (3 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
  • Yildiz, A (Akin)
    Yildiz, A (Akin) :: The effects of solid food in prevention of intestinal activity in Tc ... five patients, seven different previously known TPO polymorphisms were detected: ...
    lib.bioinfo.pl/auid:1994602
  • 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 = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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