ABCC7 p.Ser1426Phe
| ClinVar: |
c.4276T>C
,
p.Ser1426Pro
?
, not provided
|
| CF databases: |
c.4276T>C
,
p.Ser1426Pro
(CFTR1)
?
, This mutation was found in a patient with CBAVD.
c.4277C>T , p.Ser1426Phe (CFTR1) ? , This change has been detected by SSCP/HD analysis and direct sequencing. The mutation destroys a HinfI restriction site. |
| Predicted by SNAP2: | A: N (72%), C: N (57%), D: N (61%), E: N (87%), F: D (75%), G: N (72%), H: N (87%), I: N (57%), K: N (78%), L: N (53%), M: D (59%), N: N (93%), P: N (61%), Q: N (82%), R: N (66%), T: N (93%), V: N (66%), W: D (80%), Y: D (71%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: D, T: N, V: D, W: D, Y: D, |
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[hide] Molecular evaluation of CFTR sequence variants in ... Int J Androl. 2005 Oct;28(5):284-90. Larriba S, Bonache S, Sarquella J, Ramos MD, Gimenez J, Bassas L, Casals T
Molecular evaluation of CFTR sequence variants in male infertility of testicular origin.
Int J Androl. 2005 Oct;28(5):284-90., [PMID:16128988]
Abstract [show]
Although the involvement of the CFTR gene has been well established in congenital agenesia of vas deferens, its role in non-obstructive (NOb) infertility is still a matter of debate. In order to definitively define the involvement of the CFTR gene in spermatogenic impairment and a potential synergistic contribution to known genetic and clinical factors, genetic variants in the entire coding sequence and the immediately flanking regions of the CFTR gene, along with a thorough clinical evaluation, were analysed in 83 NOb infertile patients and 87 clinically well-defined fertile individuals as controls. The results of our study showed no statistical difference between CFTR carrier frequency in the infertile and fertile population. Specifically, the IVS8-6(5T) allele carrier frequency was similar in NOb infertile patients when compared with fertile men, but it is noteworthy that, when fertile men were classified into having optimal and suboptimal fertility, no 5T allele was found among the 35 men with optimal fertility parameters. In conclusion, extensive CFTR analysis in infertile individuals and fertile population as adequate control definitively excludes the involvement of the CFTR gene variants in sperm production and stresses the importance of carefully identifying those individuals with obstructive defects, in whom CFTR screening will be beneficial.
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No. Sentence Comment
51 CFTR analysis We identified 14 different, potential disease-causing CFTR sequence variants, 11 of them are translated into missense amino acid changes (p.R75Q, p.P111L, p.R117H, p.I148T, p.R334W, p.M348K, p.G576A, p.R668C, p.D1270N, p.S1235R and p.S1426F), one deletion (p.F508del) and two alleles affecting exon splicing [IVS8-6(5T), c.1716G>A] in 30 of 83 infertile patients (Table 1) giving a frequency of 36.1%.
X
ABCC7 p.Ser1426Phe 16128988:51:248
status: NEW79 p.S1426F (c.4409 C>T) in exon 24 represents a novel mutation described here for the first time.
X
ABCC7 p.Ser1426Phe 16128988:79:2
status: NEW