ABCC7 p.Ser158Thr
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PMID: 16189704
[PubMed]
McGinniss MJ et al: "Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples."
No.
Sentence
Comment
7
We ascertained ten novel sequence variants that are potentially disease-associated: two deletions (c.1641AG>T, c.2949_2853delTACTC), seven missense mutations (p.S158T, p.G451V, p.K481E, p.C491S, p.H949L, p.T1036N, p.F1099L), and one complex allele ([p.356_A357del; p.358I]).
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ABCC7 p.Ser158Thr 16189704:7:161
status: NEW86 Three novel missense mutations (p.S158T, p.K481E and p.H949L) are consistent with being disease-associated alleles, but the evidence for this was not as strong as for the three previously mentioned.
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ABCC7 p.Ser158Thr 16189704:86:34
status: NEW97 The only exception is for the missense mutation p.S158T found within L1 domain of CFTR.
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ABCC7 p.Ser158Thr 16189704:97:50
status: NEW120 The one exception was for the p.S158T mutation that we believe to be disease associated.
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ABCC7 p.Ser158Thr 16189704:120:32
status: NEW
PMID: 17890437
[PubMed]
Montgomery J et al: "Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis."
No.
Sentence
Comment
98
Allele fraction (%) 1 125GϾC 3.8 3 356GϾA R75Q 3.5 4 605GϾC S158T Ͻ0.4b,c 6b 1001 ϩ 11CϾT 13.1 10 1540AϾG M470V 30.0d 1716GϾA 1.5 12 1859GϾC G576A 1.5 13 2134CϾT R668C 1.5 14a 2694TϾG 26.2 14b 2752 - 6TϾC 0.4 15 3032TϾC L967S 0.8 17b 3417AϾT T109S 1.5 19 3601 - 17TϾC 0.4 20 3891GϾA Ͻ0.4b,c 4002AϾG 1.5 21 4029AϾG 0.4 23 4294CϾG L1388V 0.4b 4316GϾA C1395Y 0.4b 4374 ϩ 13AϾG 0.4 24 4404CϾT 0.8 4521GϾA 20.8 a All variants were identified by scanning random panels and confirmed by sequencing.
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ABCC7 p.Ser158Thr 17890437:98:78
status: NEW90 Four variants (p.S158T, c.3891GϾA, p.L1388V, and p.C1395Y) have not been reported previously, and each was detected in only a single sample.
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ABCC7 p.Ser158Thr 17890437:90:17
status: NEW