ABCMdb

ABCC7 p.Arg1358Ser

None has been submitted yet.

Publications

PMID: 11379874 [PubMed] Le Marechal C et al: "Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling."

No. Sentence Comment

133 296 Table 2 (continued) Exon/ intron Mutant name Nucleic acid change Amino acid change Effect on amino acid sequence Patient 16 S 977 F C to Tat 3062 Ser to Phe at 977 (TCC to TTC) Missense CF patient 17a G 1003 X G to T at 3139 Gly to Stop at 1003 (GGA to TGA) Nonsense CF patient 17a Q 1042 X C to T at 3256 Gln to Stop at 1042 (CAA to TAA) Nonsense CF patient 17b L 1059 L A to G at 3309 Leu to Leu at 1059 (TTA to TTG) Silent Control 17b R 1066 S C to A at 3328 Arg to Ser at 1066 (CGT to AGT) Missense CF patient 17b T 1115 T C to A at 3477 Thr to Thr at 1115 (ACC to ACA) Silent Control 17b 3499+6 A to G A to G at 3499 Splicing CF patient 17b 3499+7 T to G T to G at 3499+7 Splicing Control 18 Delta M 1140 Deletion of 3 pb Frameshift CF patient 18 M 1140 K T to A at 3551 Met to Lys at 1140 (ATG to AAG) Missense Bronchiectasis 19 S 1159 F C to T at 3608 Ser to Phe at 1159 (TCT to TTT) Missense CF patient 19 S 1161 R C to G at 3615 Ser to Arg at 1161 (AGC to AGG) Missense CF patient 19 S 1206 X C to G at 3749 Ser to Stop at 1206 (TCA to TGA) Nonsense CF patient 20 F 1257 L T to G at 3903 Phe to Leu at 1257 (TTT to TTG) Missense CF patient 20 4005+33 A to G A to G at 4005 +33 Splicing Bronchiectasis 21 V1293I G to A at 4009 Val to Ile at 1293 Missense Control 21 4015 Del A Deletion of A at 4015 Frameshift CF patient 21 N 1303 I A to T at 4040 Asn to Ile at 1303 (AAC to ATC) Missense CF patient 21 P 1306 P C to T at 4050 Pro to Pro at 1306 (CCC to CCT) Silent CF patient 21 E 1308 X G to T at 4064 Glu to Stop at 1308 (GAA to TAA) Nonsense CF patient 22 4172 Del GC Deletion of GC at 4172 Frameshift CF patient 22 R 1358 S A to T at 4206 Arg to Ser at 1358 (AGA to AGT) Missense Control 22 I 1366 T T to C at 4229 Ile to Thr at 1366 (ATC to ACC) Missense Control 23 4374+10 T to C T to C at 4374+ 10 Splicing CF patient 24 D 1477 D T to C at 4563 Asp to Asp at 1477 (GAT to GAC) Silent Control This new tool thus greatly improves genetic counselling. Login to comment

PMID: 18687795 [PubMed] Audrezet MP et al: "Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene."

No. Sentence Comment

63 Continued Exon Primer Sequences GC length Amplicon length (bp) Introns Number of heterozygous- positive controls Number of homozygous- positive controls Recommended control 16 LSCFE16Fmod 5Ј-CCGCTGAATGCGTCTACTGTGATCCA-3Ј 3 299 bp 77 6 G970R LSCFE16Rmod 5Ј-CCGTAGACAGGACTTCAA CCCTCAATCAA-3Ј 3 87 3120ϩ1GϾA 17a LSCFE17AFmod 5Ј-CCGCCGGACACACTTTG TCCACTT-3Ј 6 286 bp 49 13 3121-1GϾA LSCFE17ARmod 5Ј-CCGCCGTCAAATAGCTCTTATAGCTTTTTT ACAAGATG-3Ј 6 25 I1027T 17b LSCF17BAFmod 5Ј-CCGCCGCCCCGCCGTCAGGTACA AGATATTATG-3Ј 14 56 11 3272-26AϾG LSCF17BARmod 5Ј-CCGCCGCCGCAGTGTTGACAGGT ACAAGAAC-3Ј 7 247 bp A1067T LSCF17BBFmod 5Ј-CCGCCCTTACTTTGAAACTCTGTT CCACAAAGC-3Ј 4 247 bp T1095T LSCF17BBRmod 5Ј-CCGCCGTTGATAACCTATAGAATG CAG-3Ј 6 62 E1104X 18 LSCFE18Fmod 5Ј-CCGCCGAGTCGTTCACAGAAGA GAGAAATAAC-3Ј 6 236 bp 34 2 D1152H LSCFE18Rmod 5Ј-CCGCCGCCGCGGTACTTTGTT ACTTGTCTGAATTTTTTT-3ЈCATAA 12 25 3547delA 19 LSCF19i5mod 5Ј-CCGCCGCCGCGCATCAAACTA ATTGTGAAATTGTCTGCC-3Ј 10 408 bp 73 10 S1235R LSCF19i3mod 5Ј-CCGCCGCCGCACACATTGCT TCAGGCTACTGGGA-3Ј 11 49 R1162L 20 LSCF20i5mod 5Ј-CCGCCGCCGCCGCTACTGAATTATGT TTATGGCATGG-3Ј 13 323 bp 44 13 W1282X LSCF20i3mod 5Ј-CCGCCGCCGCTCTTGAGTACAAGTA TCAAATAGCAG-3Ј 10 50 4005ϩ33GϾA 21 LSCFe21F 5Ј-CCGCCGCCGCGCAAGTTATTCATA CTTTCTTCTTCTTT-3Ј 12 217 bp 15 5 1 N1303K LSCFe21R 5Ј-CCGCCGCCGCTATATCAGCCA TTTGTG-3Ј 8 47 Q1313X 22 LSCFe22FmodC LSCFe22 RmodD 5Ј-CCGCCGAGAATGTCAAC TGCTTGAGTGT-3Ј 6 311 bp 41 2 R1358S 5Ј-CCGCCGGCAGGCATAATGA TTCTGTTCCCAC-3Ј 10 51 I1366T 23 LSCFE23Fmod 5Ј-CCGCCGCCGCAAGGTAAAT ACAGATCAT-3Ј 9 259 bp 44 3 4374ϩ1GϾT 4374ϩ13AϾG LSCFE23Rmod: 5Ј-CCGGCAGGAACTATCACAT GTGAGATTG-3Ј 3 53 24 LSCFE24FmodB 5Ј-CCGCCGCTTTGAGCCTGT GCCAGTTTCTGT-3Ј 6 378 bp 58 5 1 Q1463Q LSE24RmodB 5Ј-CCGCCGACGAGCTCCAATTC CATGAGGTGA-3Ј 6 62 Y1424Y the same technique: the majority of our samples were extracted by a classical saline technique or an automated extraction and their quality was adequate. Login to comment