ABCC7 p.Met469Ile
ClinVar: |
c.1407G>T
,
p.Met469Ile
?
, not provided
c.1405A>G , p.Met469Val ? , not provided |
CF databases: |
c.1405A>G
,
p.Met469Val
(CFTR1)
?
,
|
Predicted by SNAP2: | A: N (66%), C: N (66%), D: D (71%), E: D (63%), F: D (53%), G: D (53%), H: N (57%), I: N (61%), K: N (78%), L: N (66%), N: N (61%), P: D (66%), Q: N (78%), R: N (66%), S: N (78%), T: N (57%), V: N (66%), W: D (80%), Y: N (53%), |
Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: D, H: N, I: N, K: N, L: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Mutation spectrum of the CFTR gene in Taiwanese pa... Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19. Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19., [PMID:15905293]
Abstract [show]
BACKGROUND: Clinically affected cystic fibrosis (CF) patients present a spectrum of genital phenotypes ranging from normal fertility to moderately impaired spermatogenesis and congenital bilateral absence of vas deferens (CBAVD). Little is known about the CF incidence in the Taiwanese population. It has been shown that the CBAVD in men without clinical evidence of CF is associated with a high incidence of mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles. In order to understand the involvement of the CFTR gene in the aetiology of Asian/Taiwanese male infertility, we screened the entirety of the CFTR gene in 36 infertile males with CBAVD. METHODS: Temporal temperature gradient gel electrophoresis (TTGE) followed by direct DNA sequencing was used. RESULTS: Five mutations, p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N, were found in five of the patients. p.N287K occurred in the first transmembrane-spanning domain, p.M469I in the first ATP-binding domain and p.S895N in the second transmembrane-spanning domain, were novel. In addition, seven homozygous and seven heterozygous 5T alleles in the intron 8 poly(T) tract were found. The overall frequency of CFTR mutant alleles in Taiwanese CBAVD males was 26 out of 72 = 36%. This finding was lower than the published frequency of CFTR mutations in other ethnic CBAVD patients (ranging from 50 to 74%). The frequency of p.M470V in Taiwanese CBAVD patients is not significantly different from that in the general population (P = 0.12). CONCLUSIONS: The results of this study add to the short list of Taiwanese/Asian CFTR mutations. Unlike Caucasian patients, the CFTR mutations cannot account for the majority of Taiwanese CBAVD. This is consistent with the low incidence of CF in the Asian/Taiwanese population. Furthermore, the mutation spectrum of CFTR in CBAVD patients does not overlap with the Caucasian CFTR mutation spectrum.
Comments [show]
None has been submitted yet.
No. Sentence Comment
44 (TG)12 7T/(TG)12 7T M/M N BHy 6 Neg 11 58 M469I/?
X
ABCC7 p.Met469Ile 15905293:44:42
status: NEW6 RESULTS: Five mutations, p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N, were found in five of the patients.
X
ABCC7 p.Met469Ile 15905293:6:67
status: NEW7 p.N287K occurred in the first transmembrane-spanning domain, p.M469I in the first ATP-binding domain and p.S895N in the second transmembrane-spanning domain, were novel.
X
ABCC7 p.Met469Ile 15905293:7:63
status: NEW107 These novel mutations include p.M469I (1539G .
X
ABCC7 p.Met469Ile 15905293:107:32
status: NEW115 Although the p.M469I mutation has never been reported, mutation at the same amino acid, p.M469V, has been found in CBAVD patients (http://genet.sickkids.on.ca).
X
ABCC7 p.Met469Ile 15905293:115:15
status: NEW155 T (p.M469I); arrow 2 = c.1408A .
X
ABCC7 p.Met469Ile 15905293:155:5
status: NEW[hide] Exon 10 CFTR gene mutation in male infertility. Iran J Reprod Med. 2012 Jul;10(4):315-20. Hojati Z, Heidari S, Motovali-Bashi M
Exon 10 CFTR gene mutation in male infertility.
Iran J Reprod Med. 2012 Jul;10(4):315-20., [PMID:25246892]
Abstract [show]
BACKGROUND: About 10% of infertilities with obstructive azoospermia are congenital and caused by CF gene mutations. M469I mutation was observed for the first time in Taiwanese patients. This mutation not only causes CF, but also may be the origin of infertility too. OBJECTIVE: In this study, we aimed in designing a rapid, reliable RFLP-PCR procedure for detection of M469I mutation. The correlation and association between M469I mutation with infertility was investigated in this study. MATERIALS AND METHODS: one hundred ten patients (90 non obstructive and 20 obstructive) and 60 normal individuals were considered in this study. M469I mutation was detected using RFLP-PCR. This technique was completely designed for M469I genotyping, for the first time in our study. Amplification of the region surrounding the mutation in exon 10 of CFTR gene was then performed. RFLP analysis was carried out using the NdeI restriction enzyme. RESULTS: All genomic DNA samples were genotyped successfully. M469I mutation was observed only in patients group. Therefore, genotype containing mutant allele (GT) has been detected only in the patients group. There was no significant correlation between GT and TT genotypes with infertility (p=0.437). CONCLUSION: The M469I mutation has only been observed in Exon 10 CFTR gene of infertile patients, not in the control group. This mutation causes congenital bilateral absence of vaz deferens and finally infertility. This indicates a strong association between the M469I mutation and male infertility. Therefore, this is a CF-causing CFTR mutation that could be considered as a cause of infertility.
Comments [show]
None has been submitted yet.
No. Sentence Comment
5 M469I mutation was observed for the first time in Taiwanese patients.
X
ABCC7 p.Met469Ile 25246892:5:0
status: NEW7 Objective: In this study, we aimed in designing a rapid, reliable RFLP-PCR procedure for detection of M469I mutation.
X
ABCC7 p.Met469Ile 25246892:7:102
status: NEW8 The correlation and association between M469I mutation with infertility was investigated in this study. Materials and Methods: one hundred ten patients (90 non obstructive and 20 obstructive) and 60 normal individuals were considered in this study.
X
ABCC7 p.Met469Ile 25246892:8:40
status: NEW9 M469I mutation was detected using RFLP-PCR.
X
ABCC7 p.Met469Ile 25246892:9:0
status: NEW10 This technique was completely designed for M469I genotyping, for the first time in our study.
X
ABCC7 p.Met469Ile 25246892:10:43
status: NEW14 M469I mutation was observed only in patients group.
X
ABCC7 p.Met469Ile 25246892:14:0
status: NEW16 Conclusion: The M469I mutation has only been observed in Exon 10 CFTR gene of infertile patients, not in the control group.
X
ABCC7 p.Met469Ile 25246892:16:16
status: NEW18 This indicates a strong association between the M469I mutation and male infertility. Therefore, this is a CF-causing CFTR mutation that could be considered as a cause of infertility.
X
ABCC7 p.Met469Ile 25246892:18:48
status: NEW53 Here, a procedure based on PCR was designed for rapid detection of M469I mutation.
X
ABCC7 p.Met469Ile 25246892:53:67
status: NEW73 The location of the M469I mutation was also determined in this exon.
X
ABCC7 p.Met469Ile 25246892:73:20
status: NEW77 The polymorphism that produced by the M469I mutation also does not produce any cut site for the NdeI.
X
ABCC7 p.Met469Ile 25246892:77:38
status: NEW79 The amplification of exon 10 will produce a fragment that contains an NdeI cut site, if there is no M469I mutation in this region.
X
ABCC7 p.Met469Ile 25246892:79:100
status: NEW80 In the presence of M469I CFTR mutation and infertility Iranian Journal of Reproductive Medicine Vol. 10.
X
ABCC7 p.Met469Ile 25246892:80:19
status: NEW85 RFLP-PCR The region in proximity of the M469I mutation was amplified by specific designed primers (Table I), using Ependorf PCR machine (Germany).
X
ABCC7 p.Met469Ile 25246892:85:40
status: NEW88 Statistical analysis Three GG, GT, TT genotypes for M469I polymorphism was studied here by RFLP technique.
X
ABCC7 p.Met469Ile 25246892:88:52
status: NEW90 Results The PCR was carried out using the isolated DNA as template and designed primers, CF- M469I-F and CF-M469I-R.
X
ABCC7 p.Met469Ile 25246892:90:93
status: NEWX
ABCC7 p.Met469Ile 25246892:90:108
status: NEW97 So this azoospermia patient carries two non-identical alleles, including one T that indicates the M469I mutated allele and one G that indicates the normal or wild type allele.
X
ABCC7 p.Met469Ile 25246892:97:98
status: NEW101 The M469I mutation was studied here by RFLP-PCR.
X
ABCC7 p.Met469Ile 25246892:101:4
status: NEW119 M469I SNP detection in exon 10 of CFTR gene using RFLP-PCR reaction.
X
ABCC7 p.Met469Ile 25246892:119:0
status: NEW120 A set of specific designed primers (CF-M469I-F and CF-M469I-R) were used for amplification of some part of exon 10 of the CFTR gene.
X
ABCC7 p.Met469Ile 25246892:120:39
status: NEWX
ABCC7 p.Met469Ile 25246892:120:54
status: NEW125 I heterozygote infertile patient (GT: M469I), II uncut PCR product, III a normal homozygote GG person.
X
ABCC7 p.Met469Ile 25246892:125:38
status: NEW128 M469I mutation that occurs in NBD1 was observed for the first time in Taiwanese patients in 2005.
X
ABCC7 p.Met469Ile 25246892:128:0
status: NEW129 They included 36 CBAVD patients in their study; one of them was detected to have M469I mutation.
X
ABCC7 p.Met469Ile 25246892:129:81
status: NEW147 The purpose of this study was investigation of the existence of M469I mutation in Iran's population.
X
ABCC7 p.Met469Ile 25246892:147:64
status: NEW149 Here we screened one hundred azoospermia infertile male for the existence of the M469I mutation.
X
ABCC7 p.Met469Ile 25246892:149:81
status: NEW154 When M469I mutation occurs in nucleotide binding domain of CFTR gene, it damages the normal structure of transmembrane protein.
X
ABCC7 p.Met469Ile 25246892:154:5
status: NEW156 This indicates a strong association between the M469I mutation and male infertility.
X
ABCC7 p.Met469Ile 25246892:156:48
status: NEW159 So M469I could be used in genetic counseling and pre-implantation genetic detection, to prevent from further fertility recurrence in successive generations.
X
ABCC7 p.Met469Ile 25246892:159:3
status: NEW