COL4A3 P574L - GET-Evidence

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

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Curation:
Currentness:

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COL4A3 P574L

(COL4A3 Pro574Leu)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:46pm by Genome Importing Robot.

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 @ chr2:228135631: 38.5% (3703/9614) in EVS
  • T @ chr2:227843874: 42.2% (54/128) in GET-Evidence
  • Frequency shown in summary reports: 38.5% (3703/9614)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr2:228135631

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr2:228135631

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr2:228135631

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr2:228135631

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr2:228135631

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr2:228135631

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr2:228135631

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr2:227843875

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr2:227843875

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr2:227843875

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr2:227843875

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr2:227843875

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr2:227843875

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr2:227843875

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr2:227843875

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr2:227843875

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr2:227843875

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr2:227843875

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr2:227843875

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr2:227843875

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr2:227843875

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr2:227843875

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr2:227843875

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr2:227843875

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr2:227843875

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr2:227843875

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr2:227843875

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr2:227843875

 

GS19701 - var-GS19701-1100-36-ASM
hom T @ chr2:227843875

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr2:227843875

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr2:227843875

 

NA12156

 

NA12878

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-18

 

snp-3

 

Deleted in this revision:

snp-3

 

snp-6

 

Other external references
 

    dbSNP
  • rs28381984
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the COL4A3 gene
    Collagen IV-Related Nephropathies (Alport Syndrome and Thin Base
    COL4A3 Alport Syndrome and Thin Basement Membrane Nephropathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL4A3
    Web search results (53 hits -- see all)
  • Polymorphisms in the type IV collagen {alpha}3 gene and the ...
    COL4A3, which is one of six genetically distinct homologous -chains ... functional relevance of the three COL4A3 nsSNPs studied: G162E, H451R and P574L. ...
    erj.ersjournals.com/cgi/content/full/32/1/35
  • Molecular Vision: Polymorphisms in COL4A3 and COL4A4 genes ...
    Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus ... COL4A3 G43R, P141L, D326Y, and P574L polymorphisms were predicted to have an ...
    www.molvis.org/molvis/v15/a301
  • MedWire News - Respiratory - Genetic contributor to COPD risk ...
    MedWire News: The type IV collagen alpha3 (COL4A3) gene appears to contribute to the genetic susceptibility ... H451R, P574L, and *315C>A polymorphisms in COL4A3 were genotyped ...
    medwire-news.md/48/74088/Respiratory/...
  • Polymorphisms in the Type IV Collagen Alpha3 Gene and the ...
    ... the association of COL4A3 -1162T>C, IVS2+12C>A, P141L, G162E, H451R, P574L, and *315C>A polymorphisms ... these findings suggest that the COL4A3 gene contributes to the genetic ...
    erj.ersjournals.com/cgi/content/abstract/09031936.00076207v1
  • Type II- 98%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... (dbSNP:rs2296303) COL4A3 Q01955 P574L 573 VAR_011209 CDK (0.964) MAPK ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_98.txt
  • Type II- 99%
    ... P820H 819 VAR_037799 CMGC (0.940) CDK (0.944) MAPK (0.987) Polymorphism (dbSNP:rs34046749) COL4A3 Q01955 P574L. 573 VAR_011209 CMGC (0.940) CDK (0. ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_99.txt
  • Polymorphisms in COL4A3 and COL4A4 genes associated with ...
    significance of alterations in COL4A3 and COL4A4 genes in KC patients, ... COL4A3 G43R, P141L, D326Y, and P574L. polymorphisms were predicted to have an effect when ...
    www.molvis.org/molvis/v15/a301/mv-v15-a301-stabuc-silih.pdf
  • Annals of Pulmonary Medicine
    Predicting that COL4A3 may act as a low-penetrance susceptibility gene for COPD, the team conducted a case ... H451R, P574L, and *315C>A polymorphisms in COL4A3 were genotyped ...
    english.analesdemedicina.com/neumonologia/noticia.php?...
  • Unbound MEDLINE | Polymorphisms in the Type IV Collagen ...
    Unbound MEDLINE | Polymorphisms in the Type IV Collagen Alpha3 Gene and the Risk of COPD. Journal article abstract. Search by keyword, journal, author or by EBM ...
    unboundmedicine.com/medline/ebm/record/18385178/abstract/...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

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