PROP1 A142T - GET-Evidence

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

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Curation:
Currentness:

PROP1 A142T

(PROP1 Ala142Thr)


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 @ chr5:177419967: 23.9% (2566/10756) in EVS
  • GT @ chr5:177352571: 27.3% (35/128) in GET-Evidence
  • Frequency shown in summary reports: 23.9% (2566/10756)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr5:177419967

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr5:177419967

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr5:177419967

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr5:177419967

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr5:177419967

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr5:177419967

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr5:177419967

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr5:177419967

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr5:177419967

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr5:177419967

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr5:177419967

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr5:177419967

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr5:177419967

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr5:177419967

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr5:177419967

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr5:177419967

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr5:177352573

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr5:177352573

 

GS07357 - var-GS07357-1100-36-ASM
hom T @ chr5:177352573

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr5:177352573

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr5:177352573

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr5:177352573

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr5:177352573

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr5:177352573

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr5:177352573

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr5:177352573

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr5:177352573

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chr5:177352573

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr5:177352573

 

NA12878

 

Other external references
 

    dbSNP
  • rs1800197
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • Comparative genomics reveals functional transcriptional ...
    A BAC transgene containing Prop1 completely rescues the Prop1 mutant phenotype, demonstrating that the ... Prop1 expression is activated in Pitx1 and Pitx2 single mutants, but ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1998882
  • An Uncommon Phenotype with Familial Central Hypogonadism ...
    Context: PROP1 gene mutations are usually associated with childhood ... any PROP1 mutation except an already described (7, 12, 15) heterozygous polymorphism at codon 142 (A142T) ...
    jcem.endojournals.org/cgi/content/full/90/8/4880
  • "Hot Spot" in the PROP1 Gene Responsible for Combined ...
    different forms of CPHD for PROP1 gene alterations, and second to ... The PROP1 gene alterations included 3 missense. mutations, 2 frameshift mutations, and 1 ...
    jcem.endojournals.org/cgi/reprint/84/5/1645.pdf
  • Comparative genomics reveals functional transcriptional ...
    Prop1 completely rescues the Prop1 mutant phenotype, demonstrating that the regulatory ... proper PROP1 transcription are contained within the BAC. We generated ...
    digitalcommons.unl.edu/cgi/viewcontent.cgi?article=1232&...
  • brianPCOS Poster.ppt
    A142T is noted to be a possible polymorphism. Given geographical association of this ... P., Enjalbert, A., Brue, T. Prop1 Gene screening in patients with multiple ...
    pediatrics.uchicago.edu/chiefs/research/posters 2005/...

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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