ABCC7 p.Glu56Gly
| ClinVar: |
c.166G>A
,
p.Glu56Lys
?
, not provided
|
| CF databases: |
c.166G>A
,
p.Glu56Lys
D
, CF-causing ; CFTR1: Missense mutation E56K was identified in a German CBAVD patient heterozygous for this mutation and for [delta]F508.
|
| Predicted by SNAP2: | A: N (72%), C: N (72%), D: N (72%), F: N (72%), G: N (57%), H: N (78%), I: N (66%), K: N (61%), L: N (72%), M: N (72%), N: N (72%), P: D (53%), Q: N (82%), R: N (61%), S: N (72%), T: N (72%), V: N (78%), W: N (53%), Y: N (82%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, F: D, G: N, H: N, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: N, S: N, T: N, V: D, W: D, Y: N, |
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[hide] A Genotypic-Oriented View of CFTR Genetics Highlig... Mol Med. 2015 Apr 21;21:257-75. doi: 10.2119/molmed.2014.00229. Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, Strom R
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Mol Med. 2015 Apr 21;21:257-75. doi: 10.2119/molmed.2014.00229., [PMID:25910067]
Abstract [show]
Cystic fibrosis (CF) is a monogenic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic challenges persist. We enrolled 610 patients with different forms of CF and studied them from a clinical, biochemical, microbiological and genetic point of view. Overall, there were 125 different mutated alleles (11 with novel mutations and 10 with complex mutations) and 225 genotypes. A strong correlation between mutational patterns at the genotypic level and phenotypic macrocategories emerged. This specificity appears to largely depend on rare and individual mutations, as well as on the varying prevalence of common alleles in different clinical macrocategories. However, 19 genotypes appeared to underlie different clinical forms of the disease. The dissection of the pathway from the CFTR mutated genotype to the clinical phenotype allowed to identify at least two components of the variability usually found in the genotype-phenotype relationship. One component seems to depend on the genetic variation of CFTR, the other component on the cumulative effect of variations in other genes and cellular pathways independent from CFTR. The experimental dissection of the overall biological CFTR pathway appears to be a powerful approach for a better comprehension of the genotype-phenotype relationship. However, a change from an allele-oriented to a genotypic-oriented view of CFTR genetics is mandatory, as well as a better assessment of sources of variability within the CFTR pathway.
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No. Sentence Comment
181 Old nomenclature (legacy name) New nomenclature (HGVS name) Nucleotidic Aminoacidic Nucleotidic Aminoacidic Position notation notation Position notation notation Exon 10 1567G>T E479X exon 11 c.1435G>T p.Glu479* Exon 9 1456A>T K442X exon 10 c.1324A>T p.Lys442* Exon 11 1717G>A D529N exon 12 c.1585G>A p.Asp529Asn Exon 10 1526C>A T465N exon 11 c.1394C>A p.Thr465Asn Exon 2 188G>A W19X(TAG) exon 2 c.56G>A p.Trp19*(TAG) Exon 22 4256A>C H1375P exon 25 c.4124A>C p.His1375Pro Exon 13 2467C>T Q779X exon14 c.2335C>T p.Gln779* Exon 20 3871G>C G1247R(G>C) exon 23 c.3739G>C p.Gly1247Arg Exon 20 3862G>A G1244R exon 23 c.3730G>A p.Gly1244Arg Intron 7 1249-8A>G - intron 8 c.1117-8A>G - Exon 3 299A>G E56G exon 3 c.167A>G p.Glu56Gly Table 2.
X
ABCC7 p.Glu56Gly 25910067:181:692
status: NEWX
ABCC7 p.Glu56Gly 25910067:181:715
status: NEW202 ];[1117-8A>G;1727G>C;2002C>T] F 72 &#b1; 4 - Symptoms CF-PS 14 F508del/E56G c.
X
ABCC7 p.Glu56Gly 25910067:202:71
status: NEW204 [Phe508del];[Glu56Gly] OA, Obstructive azoospermia; -, not applicable because female; nd, not determined.
X
ABCC7 p.Glu56Gly 25910067:204:13
status: NEW258 The E56G (p.Glu56Gly) mutation was found in a CBAVD male subject with a F508del/E56G (p.
X
ABCC7 p.Glu56Gly 25910067:258:4
status: NEWX
ABCC7 p.Glu56Gly 25910067:258:12
status: NEWX
ABCC7 p.Glu56Gly 25910067:258:80
status: NEW259 [Phe508del];[Glu56Gly]) genotype.
X
ABCC7 p.Glu56Gly 25910067:259:13
status: NEW363 [72G>C;164+2T>G] uncertain: CF-PI and/or CF-PS L24F nd; 296+2T>G nd R31C c.91C>T CFTR-RD non CF-causing p.Arg31Cys S42F c.125C>T uncertain: found only with an unknown allele in trans nd p.Ser42Phe E56G c.167G>A CBAVD nd p.Glu56Lys [R74W;V201M;D1270N] c.
X
ABCC7 p.Glu56Gly 25910067:363:197
status: NEW