ABCMdb

ABCC7 p.Ser158Asn

None has been submitted yet.

Publications

PMID: 12820707 [PubMed] Hicks K et al: "Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508."

No. Sentence Comment

1 Cystic Fibrosis: S158N (605G R A) Is a Rare Genetic Variant Found in Coupling with DF508 KAREN HICKS, WENDY BEADLING, and ANTONY E. SHRIMPTON ABSTRACT A single nucleotide change at codon 158 in exon 4 of the CFTR gene ABCC7 was detected in an asymptomatic individual who carried DF508 and had a family history of cystic fibrosis (CF). Login to comment
2 Further study, using linkage, revealed that S158N was coupled with DF508, both having been inherited from the same parent. Login to comment
22 This transition of a G to A occurs at nucleotide 605; the second nucleotide of codon 158, is predicted to result in the substitution of an asparagine (AAT) for a serine (AGT), hence the designation S158N. Login to comment
23 Follow-up testing on the patient`s parents and affected sibling surprisingly showed that S158N and DF508 were in coupling, having been inherited from the same parent (Fig. 4). Login to comment
29 To our surprise, we found that the new mutation, S158N, was coupled with DF508. Login to comment
31 Thus, we describe S158N as a rare genetic variant. Login to comment
40 Serine to asparagineat codon158: S158N (605G R A). Login to comment
42 CF: S158N (605G R A). Login to comment
48 Additional studies will be needed to determine whether S158N is such a modifying mutation, a primary pathologic mutation, or a benign variant. Login to comment
49 If the S158N/DF508 genotype had first been detected in the CF-affected child, rather than as in this case, in an unaffected sibling, how often would a family study to determine linkage have been initiated? Login to comment

PMID: 18782298 [PubMed] Sharma N et al: "Identification and characterization of CFTR gene mutations in Indian CF patients."

No. Sentence Comment

2 We report identification of 14 previously known and eight novel mutations, namely 3986-3987delC, 876-6del4, 1792InsA, L69H, S158N, Q493L, I530L and E1329Q. Login to comment
67 They included nine missense mutations (L69H, S158N, Q493L, Y517C, V520F, I530L, S549N, E1329Q, and Y1381H), one insertion mutation (1792insA), three splice site mutations (876-6del4, 1525-1G-A, 3120+1G-A), two deletion mutations (1161delC, 3986delC), and 1 nonsense mutation (L218X). Login to comment
73 Novel Mutations and Phenotypic Features Output prediction scores were assessed for five novel mutations; they were >0.5 for L69H & Q493L and <0.5 for S158N, I530L & E1329Q (Table 3). Login to comment
79 S158N The chief complaint of the 13 yr old patient, compound heterozygous for S158N, was recurrent coughs for the last five years. Login to comment
96 Table 2 Genotypes of CF subjects (n=50) Genotype Number of subjects Delta F508/Delta F508 5 Delta F508/3849+10kb C-T 1 Delta F508/S549N 2 Delta F508/S158N 1 Delta F508/Y1381H 1 Delta F508/1525-1 G-A 2 V520F/R117H 1 I530L/I530L 1 876-6del4/876-6del4 1 1792ins A/1792insA 1 3986-3987delC/3986-3987delC 1 Delta F508/U 10 1161 delC/U 2 L69H/U 1 R117H/U 1 Q493L/U 1 Y517C/U 1 S549N/U 3 G551D/U 1 E1329Q/U 1 N1303K/U 1 Y1381H/U 1 L218X/U 1 R553X/U 1 1525-1G-A/U 3 3120+1G-A/U 2 3849+10kb C-T/U 2 U/U 1 U-unidentified Table 3 Outcome prediction scores of novel substitution mutations identified in Indian CF patients Wild type Mutant Position Output Reliablity Prediction L H 69 0.5210 0 Pathological S N 158 0.3304 3 Neutral Q L 493 0.7784 5 Pathological I L 530 0.0591 8 Neutral E Q 1329 0.1018 7 Neutral Molecular Modelling and Bioinformatics (MMB) program (http://mmb.pcb.ub.es/PMut/) was used for pathological predictions of novel sequence variants. Login to comment
113 We first identified five of the mutations by ARMS (Delta F508, R117H, R553X, N1303K & G551D) and one by restriction digestion (3849+10kbC-T) and later identified by SSCP eight known (Y517C, V520F, S549N, Y1381H, 1525-1G-A, 3120+1G-A, 1161delC and L218X) and eight previously unreported mutations (L69H, S158N, Q493L, I530L, E1329Q, 876-6del4, 1792insA and 3986-3987delC). Login to comment
133 Output prediction scores deduced using molecular modeling and a bioinformatics program (http://mmb.pcb.ub.es/PMut/) revealed that among the novel mutations, L69H and Q493L are pathologic but S158N, I530L and E1329Q are neutral. Login to comment

PMID: 21966101 [PubMed] Prasad R et al: "Molecular basis of cystic fibrosis disease: an Indian perspective."

No. Sentence Comment

99 The other seven known but rare mutations (1161delC, Y517C, V520F, S549N, Y1381H, L218X and 1525-1G-A) were identified at a combined frequency of (17%), and eight new mutations (3986delC, 1792InsA, L69H, S158N, Q493L, I530L, E1329Q and 876-8del4) identified in our CF population represented (15%) of the total CF alleles analyzed. Login to comment