ABCC7 p.Glu585Gln
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PMID: 24958810
[PubMed]
Sharma H et al: "Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers."
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82
SSCP analysis and subsequent DNA sequencing further revealed eleven mutations, viz., p.Gly480Ser, p.Ser549Asn, p.Arg518Lys, p.Gly126Cys, p.Ala141Gly, p.His139Gln, p.Ser118Pro, p.Arg170Cys, p.Glu585Gln, p.Met281Arg, p.Arg933Thr and two intronic variants c.1679+24G.T, c.1766+48G.C.
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ABCC7 p.Glu585Gln 24958810:82:191
status: NEW95 1679+24G.T 1 ND p.Meth281Arg/U 1 ND p.Arg170Cys/U 1 ND p.Gly126Cys/U 1 ND p.Gly480Ser/U 1 ND p.Ser549Asn/5T 1 ND p.Arg518Lys/U 1 ND p.Ala141Gly/U 1 ND c.1766+48G.C/U 1 ND p.Glu585Gln/5T 1 ND In 11 CAVD patients, no mutation could be detected in either CFTR allele U-unidentified; ND, not detected.
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ABCC7 p.Glu585Gln 24958810:95:173
status: NEW100 Mutations Nucleotide change Consequences Exon/Intron Number of alleles T5 Reduction of oligo T tract to 5T, c.1210-12T[5] Aberrant splicing Intron 8 34 p.Phe508del c.1521_1523delCTT or c.1522_1524delTTT Deletion of phenylalanine at amino acid 508 Exon 11 16 p.Gly480Ser c.1438G.A Glycine to Serine at 480 Exon 11 1 p.Arg518Lysa c.1553G.A Arginine to Lysine at 518 Exon 11 1 p.Arg117His c.350G.A Arginine to Histidine at 117 Exon 4 4 p.Gly126Cysa c.376G.T Glycine to Cystine at 126 Exon 4 1 p.Ala141Glya c.422C.G Alanine to Glycine at 141 Exon 4 1 p.His139Glna c.417C.G Histadine to Glutamine at 139 Exon 4 1 p.Ser118Proa c.352T.C Serine to Proline at 118 Exon 4 1 p.Arg170Cys c.508C.T Arginine to Cystine at 170 Exon 5 1 p.Glu585Glna c.1753G.C Glutamate to Glutamine at 585 Exon 13 1 p.Met281Arga c.842T.G Methionine to Arginine at 281 Exon 7 1 p.Arg933Thra c.2798G.C Arginine to Threonine at 933 Exon 17 1 p.Ser549Asn c.1646G.A Serine to Asparagine at 549 Exon 12 1 CTFR, cystic fibrosis transmembrane conductance regulator.
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ABCC7 p.Glu585Gln 24958810:100:744
status: NEW147 Among the eight novel mutations identified, p.Ser118Pro, p.Met281Arg, p.Gly126Cys, p.Arg933Thr were predicted to be damaging, whereas p.Arg518Lys, p.Ala141Gly, p.His139Gln, p.Glu585Gln were possibly neutral mutations (http://genetics.bwh.harvard.edu/ pph2/).
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ABCC7 p.Glu585Gln 24958810:147:175
status: NEW