COL7A1 P1277L

(COL7A1 Pro1277Leu)

Polymorphism, presumed benign.

Variant evidence
Computational	-1	BLOSUM100 score indicates Pro to Leu is disruptive, Polyphen 2 prediction unknown.

Functional	-

Case/Control	5	Allele frequency strongly contradicts a severe pathogenic effect

Familial	-


Clinical importance
Severity	-

Treatability	-

Penetrance	-

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Mentioned as a polymorphism (nonpathogenic) in the 2005 dissertation “The Molecular Basis of Dystrophic Epidermolysis Bullosa: Mutation Detection and Study of Clinical, Biochemical and Molecular Findings in 29 Patients” by Johannes S. Kern, Albert-Ludwigs-Universitat in Freiburg.

Allele frequency

A @ chr3:48623124: 4.1% (438/10758) in EVS
A @ chr3:48598127: 4.7% (6/128) in GET-Evidence
Frequency shown in summary reports: 4.1% (438/10758)

Publications

Genomes

Other external references

dbSNP

rs35761247
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the COL7A1 gene
Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa, Autosomal Recessive, Hallopeau
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL7A1

Web search results (1 hit -- see all)

The Molecular Basis of Dystrophic Epidermolysis Bullosa ...
It is caused by mutations in the collagen VII gene, COL7A1, which consists ... sensitive and efﬁcient strategy for COL7A1 mutation analysis with direct auto ...
freidok.uni-freiburg.de/volltexte/2671/pdf/dissjsklocked.pdf

Other in silico analyses

NBLOSUM100 score = 7
GET-Evidence autoscore = 4

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_G03 from PGP sample 92527586 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_D06 from PGP sample 69488604 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Sep 21 2011 Madeleine Ball edited variant summary view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
May 19 2010 Genome Importing Robot added variant view

COL7A1 P1277L - GET-Evidence