TPO T725P - GET-Evidence

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

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(TPO Thr725Pro)

Short summary


Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)




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












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

  • rs732609
  • 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 ...
  • 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: ...
  • 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 ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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