BMPR1A P2T - GET-Evidence

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

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Curation:
Currentness:

BMPR1A P2T

(BMPR1A Pro2Thr)


Short summary

 

Variant evidence
Computational 2

PolyPhen: Benign, score 0.000
SIFT: Affect protein function 0.00
GVGD: GV 37.56; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(1);
PolyPhen=benign(0);
Condel=not_computable_was(-1)
Mutation Tasting Prediction: Polymorphism, P value: 1; protein features (might be) affected (aa 1-23 SIGNAL potential gets lost)

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

  • A @ chr10:88635779: 39.3% (4230/10758) in EVS
  • A @ chr10:88625758: 45.3% (58/128) in GET-Evidence
  • Frequency shown in summary reports: 39.3% (4230/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr10:88635779

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:88635779

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr10:88635779

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr10:88635779

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr10:88635779

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr10:88635779

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr10:88635779

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr10:88635779

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr10:88635779

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr10:88635779

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr10:88635779

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr10:88635779

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr10:88635779

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr10:88635779

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr10:88635779

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr10:88635779

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr10:88635779

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr10:88635779

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr10:88635779

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom A @ chr10:88635779

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr10:88635779

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr10:88635779

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr10:88635779

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr10:88625759

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr10:88625759

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr10:88625759

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr10:88625759

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr10:88625759

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr10:88625759

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr10:88625759

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr10:88625759

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr10:88625759

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr10:88625759

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr10:88625759

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr10:88625759

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr10:88625759

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr10:88625759

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr10:88625759

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr10:88625759

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr10:88625759

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr10:88625759

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr10:88625759

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chr10:88625759

 

GS19700 - var-GS19700-1100-36-ASM
hom A @ chr10:88625759

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr10:88625759

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr10:88625759

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr10:88625759

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr10:88625759

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr10:88625759

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr10:88625759

 

NA12878

 

Other external references
 

    dbSNP
  • rs11528010
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs3182217
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (28 hits -- see all)
  • Mutation Screening in Juvenile Polyposis Syndrome -- Pyatt et ...
    dbSNP. MADH4. Ex2. 354. G>A. A118A. BMPR1A. Ex1. 4. C>A. P2T. rs11528010. BMPR1A. Ex5. 435. G>A. P145P. rs11818239. BMPR1A. Ex8. 1140. C>T. D380D. Return to article ...
    jmd.amjpathol.org/cgi/content/full/8/1/84/T3
  • Mutation Screening in Juvenile Polyposis Syndrome
    was seen in BMPR1A in which mutations were distributed. across both ... P2T. rs11528010. BMPR1A. Ex5. 435. G A. P145P rs11818239. BMPR1A. Ex8. 1140. C T. D380D. 86. Pyatt et ...
    jmd.amjpathol.org/cgi/reprint/8/1/84.pdf
  • AceView: Gene:BMPR1A, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=BMPR1A
  • Cat. No. Product Name Product Description
    Synthetic peptide contain a sequence corresponding to a region within amino ... The usefulness of this product in other applications has not been determined. ...
    essencemedical.com/data/bbs/file_ApJIsN.xls
  • User:ProteinBoxBot/PBB Log Wiki 11-8-2007-B2-7 - Wikipedia ...
    1 Log file for Protein Box Bot. 2 Protein Status Quick Log - Date: 20: ... Hork3 (No Data); P2T(AC) (No Data); P2t(ac) (No Data); P2Y(AC) (No Data); P2y(ac) ...
    en.wikipedia.org/wiki/User:ProteinBoxBot/...
  • protein.go
    ... 26S proteasome non-ATPase regulatory subunit 11 isoform 1 unmodified form ; PRO: ... form ; PRO:000002811 $26S proteasome non-ATPase regulatory subunit 13 ...
    www.berkeleybop.org/ontologies/obo-all/protein/protein.go

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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