ABCC7 p.Ser307Asn
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PMID: 10066035
[PubMed]
Onay T et al: "Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene."
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.
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ABCC7 p.Ser307Asn 10066035:5:130
status: NEW9 This transition caused a substitution of serine for an asparagine at position 307 of the CFTR protein (S307N).
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ABCC7 p.Ser307Asn 10066035:9:103
status: NEW12 S307N could not be detected in any of the 60 normal chromosomes, nor in the 134 CF chromosomes with unknown mutations.
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ABCC7 p.Ser307Asn 10066035:12:0
status: NEW13 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.
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ABCC7 p.Ser307Asn 10066035:13:15
status: NEW15 Identification of a novel mutation, S307N.
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ABCC7 p.Ser307Asn 10066035:15:36
status: NEW16 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.
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ABCC7 p.Ser307Asn 10066035:16:64
status: NEW
PMID: 18556774
[PubMed]
Schrijver I et al: "Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis."
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.
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ABCC7 p.Ser307Asn 18556774:112:710
status: NEW