ABCMdb

ABCC7 p.Ser307Asn

ClinVar:	c.920G>A , p.Ser307Asn ? , not provided
CF databases:	c.920G>A , p.Ser307Asn (CFTR1) ? , This mutation was detected by heteroduplex analysis in a 38 year-old CBAVD patient of Turkish origin. It was not present in 134 CF and 60 normal chromosomes. The patient was also found to have the 5T allele in cis with TG12 on the other CF chromosome. The serine residue is highly conserved in the CFTR of human, bovine, mouse, Xenopus and dogfish. It abolishes a FokI site.
Predicted by SNAP2:	A: D (80%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (91%), H: D (95%), I: D (91%), K: D (95%), L: D (85%), M: D (91%), N: N (78%), P: D (95%), Q: D (91%), R: D (95%), T: D (71%), V: D (91%), W: D (95%), Y: D (95%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: N, G: D, H: D, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, R: N, T: N, V: N, W: N, Y: N,

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Publications
[hide] Analysis of infertile brothers with congenital bil... Clin Genet. 1999 Jan;55(1):63-4. Onay T, Kayserili H, Apak MY, Kirdar B
Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene.
Clin Genet. 1999 Jan;55(1):63-4., [PMID:10066035]

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No. Sentence Comment
5 In this study, we report the presence of a novel missense mutation in the CFTR gene of two infertile brothers with CBAVD; namely, S307N on one chromosome, inherited from the mother, together with the (TG)12T5-V470 allele on the other chromosome, inherited from father. Login to comment
9 This transition caused a substitution of serine for an asparagine at position 307 of the CFTR protein (S307N). Login to comment
12 S307N could not be detected in any of the 60 normal chromosomes, nor in the 134 CF chromosomes with unknown mutations. Login to comment
13 The absence of S307N on normal chromosomes and the evolutionary conservation of serine residue at this position in the human, bovine, mouse, Xenopus, and dogfish CFTR genes (8), suggest that its substitution may have significant effects on CFTR function. Login to comment
15 Identification of a novel mutation, S307N. Login to comment
16 a) Sequence analysis of exon 7 of the CFTR gene; b) analysis of S307N mutation by AluI digestion of the PCR-amplified exon 7 [lane 1. Login to comment

[hide] Multiplex ligation-dependent probe amplification i... J Mol Diagn. 2008 Jul;10(4):368-75. Epub 2008 Jun 13. Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.
J Mol Diagn. 2008 Jul;10(4):368-75. Epub 2008 Jun 13., [PMID:18556774]

Abstract [show]
A disparity between Caucasian and Hispanic mutation detection for cystic fibrosis continues to exist, although the carrier frequency is only moderately lower in Hispanics. We aimed to identify exonic rearrangements that remained undetected by conventional methods. In seven of 32 cystic fibrosis-affected self-identified Hispanics for whom only one or no mutations were identified by extensive molecular testing, exon deletions appeared to be present with a multiplex ligation-dependent probe amplification (MLPA) assay. Two recurrent deletions (of exons 2-3 and exons 22-23) were identified in one and three patients, respectively (12.5%, 11.1% of unidentified alleles). Two apparently novel deletions (exons 6b and 20) were identified in three additional patients. Subsequent sequencing to characterize deletion breakpoints, however, identified single nucleotide deletions at the probe binding sites close to the ligation point. All resulted in false positive MLPA deletion signals. Interestingly, these mutations were not common in Caucasians, and one (935delA) was common in U.S. Hispanics. On examination of all probe binding sites, we identified a total of 76 reported mutations and five silent variants that immediately surrounded the MLPA ligation sites, with 22 occurring in non-Caucasians. These mutations are not all rare. Thus, apparent exon deletions by MLPA may indicate the presence of both large deletions and point mutations, with important implications for pan-ethnic MLPA testing in cystic fibrosis and other genetic conditions.

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Sentences [show]
No. Sentence Comment
112 Mutations under MLPA Ligation Sites Exon Probe length (nt) Ligation site sequence Mutations in area of ligation site sequence* 1,5Ј UTR 154 5Ј-GAGCAAAT-TTGGGGCC-3Ј N/A 1,5Ј UTR 238 5Ј-AAAGGGTT-GAGCGGCA-3Ј 2 198 5Ј-TTGGTATA-TGTCTGAC-3Ј (5) 3 136 5Ј-CTGCTAGT-GTTGCCAA-3Ј (3) 3 220 5Ј-TTCAAAGA-AAAATCCT-3Ј 4 247 5Ј-AGAATCAT-AGCTTCCT-3Ј 444delA, African; 451del8, Chinese; (6) 5 346 5Ј-AAATAAGT-ATTGGACA-3Ј Q179K, Hispanic (7) 6a 274 5Ј-GAGTTGTT-ACAGGCGT-3Ј L218X, Pakistani (4) 6b 301 5Ј-ATTTTCAA-TCATTTCT-3Ј 935delA, Hispanic; 936delTA, Hispanic (3) 7 337 5Ј-ACTTCAAT-AGCTCAGC-3Ј S307N, Turkish (9) 8, IVS 8 364 5Ј-TTTCTAGA-TTAAGAAG-3Ј N/A 9, IVS 8 391 5Ј-TCCATCAC-ACTGGTAG-3Ј N/A 10 463 5Ј-TCCACTGT-GCTTAATT-3Ј H484Y, Hispanic; S485C, Chinese-Caucasian (5) 11 418 5Ј-CAGAGAAA-GACAATAT-3Ј K536X, Iranian; 1742delAC, Japanese (5) 12, IVS 12 292 5Ј-TGCATTTT-ACCTCTTG-3Ј N/A 13 142 5Ј-CAGATTCT-GAGCAGGG-3Ј (1) 14a 160 5Ј-GTATGTGT-TCCATGTA-3Ј (3) 14b 178 5Ј-CTGCTTCT-TTGGTTGT-3Ј 2766del8, Tunisian (1) 15 204 5Ј-GCTTGCTA-TGGGATTC-3Ј (1) 16, IVS 16 229 5Ј-GATGTAAT-AGCTGTCT-3Ј N/A 17a 256 5Ј-TGCAACAA-AGATGTAG-3Ј 3171delC, Hispanic; 3173delAC, Turkish; F1016S, Hispanic (5) 17b 283 5Ј-CAGTATGT-AAATTCAG-3Ј H1085R, Japanese (4) 18 310 5Ј-CCATGAAT-ATCATGAG-3Ј M1137R, Hispanic (6) 19 353 5Ј-TCTGTGTA-TTTTGCTG-3Ј 3791delC, African-American (2) 20 382 5Ј-CTTGGGAT-TCAATAAC-3Ј 3960delA, Hispanic (2) 21 409 5Ј-TGCAACTT-TCCATATT-3Ј W1316X, African-American (2) 22 436 5Ј-GAACAGTT-TCCTGGGA-3Ј No mutations 23 148 5Ј-CCAGCATT-GCTTCTAT-3Ј M1407T, Turkish; E1409K, Hispanic (2) 24 190 5Ј-ATCCAGAA-ACTGCTGA-3Ј No mutations 24 172 5Ј-CTCCTCTT-TCAGAGCA-3Ј UTR, untranslated region; IVS, intervening sequence; N/A, not applicable, probes not in coding region; No mutations, no reported mutations are present in the area of the ligation site sequence, regardless of ethnicity. Login to comment