ABCC7 p.Thr388Met
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PMID: 15070876
[PubMed]
Dayangac D et al: "Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens."
No.
Sentence
Comment
42
2 (2.0)a This study R74W Exon 3 C®T at 352 Amino acid substitution 1 (1.0) Claustres et al. 1993b 359insT Exon 3 Insertion of T within 360±365 Truncation 1 (1.0) Claustres et al. 1995* A349V Exon 7 C®T at 1178 Amino acid substitution 1 (1.0) Audrezet et al. 1993 R334Q Exon 7 G®A at 1133 Amino acid substitution 1 (1.0) Ferec et al. 1994* T388M Exon 8 C®T at 1295 Amino acid substitution 1 (1.0) Zielenski et al. 1996 IVS8-6T Intron 8 Deletion of T between 1342±12 and 1342±6 Aberrant splicing?
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ABCC7 p.Thr388Met 15070876:42:359
status: NEW47 *The following mutations were previously reported as personal communications to the CF Genetic Analysis Consortium (http://www.genet.sickkids.on.ca): 359insT by Claustres M, Desgeorges M, Romey M-C; R334Q by FeÂrec C, Quere I, Verlingue C, Raguenes O, AudreÂzet M-P, Mercier B; T388M by Zielenski J, Markiewicz D, Tsui L-C, Rawashdeh M, Khateeb M; E831X by FeÂrec C, Quere I, Audrezet MP, Verlingue C, Guillermit H, Mercier B; M952I by Girodon E, Costes B, Cazeneuve C, Ghanem N, Goossens M; R1070W by Macek M Jr, Sedriks S, Kiesewetter S, Cutting GR; D1152H by Highsmith WE Jr, Burch L, Friedman KJ, Wood BM, Spock A, Silverman LM, Knowles MR.
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ABCC7 p.Thr388Met 15070876:47:288
status: NEW75 (TG)11 7T/ (TG)10 9T M/V 1 (1.9) T388M/?
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ABCC7 p.Thr388Met 15070876:75:33
status: NEW
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
91
Melting profiles of different mutations of exon 8: 1249-5AϾG, L375F, 1259insA, T388M, and W401X.
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ABCC7 p.Thr388Met 18687795:91:85
status: NEW