ABCMdb

ABCC7 p.Met1140Lys

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: 19236881 [PubMed] Enquist K et al: "Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein."

No. Sentence Comment

113 For CFTR, we chose mutations located in TM1CFTR (F87L, G91R), TM3CFTR (P205S, L206W), TM4CFTR (C225R), TM5CFTR (DF311, G314E), TM6CFTR (R334L/W, I336K/R/D, I340N/S, L346P, R347L/H), TM8CFTR (S909I, S912L), TM9CFTR (I1005R, A1006E), TM10CFTR (Y1032N), and TM12CFTR (M1137R, ΔM1140, M1140K), or close to the TM region of TM1CFTR (R74W, L102R/P), TMF2CFTR (R117P/L, L137P), and TM11CFTR (M1101K/R). Login to comment
109 For CFTR, we chose mutations located in TM1CFTR (F87L, G91R), TM3CFTR (P205S, L206W), TM4CFTR (C225R), TM5CFTR (DF311, G314E), TM6CFTR (R334L/W, I336K/R/D, I340N/S, L346P, R347L/H), TM8CFTR (S909I, S912L), TM9CFTR (I1005R, A1006E), TM10CFTR (Y1032N), and TM12CFTR (M1137R, ƊM1140, M1140K), or close to the TM region of TM1CFTR (R74W, L102R/P), TMF2CFTR (R117P/L, L137P), and TM11CFTR (M1101K/R). Login to comment