COL4A3 P574L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

COL4A3 P574L

(COL4A3 Pro574Leu)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr2:228135631

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr2:228135631

 

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

 

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

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr2:228135631

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr2:228135631

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom T @ chr2:228135631

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr2:228135631

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom T @ chr2:228135631

 

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

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr2:228135631

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr2:228135631

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr2:228135631

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr2:228135631

 

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

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom 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

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom T @ chr2:228135631

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr2:228135631

 

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

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
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

 

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

"GENE" or "GENE A123C":

Log in