ABCMdb

PMID: 11022033

Gentzsch M, Riordan JR
Localization of sequences within the C-terminal domain of the cystic fibrosis transmembrane conductance regulator which impact maturation and stability.
J Biol Chem. 2001 Jan 12;276(2):1291-8., 2001-01-12 [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCC7 p.Val1415* ABCC7 p.Leu1430* ABCC7 p.Ser1435* ABCC7 p.Ala1440* ABCC7 p.Lys1420* ABCC7 p.Cys1410* ABCC7 p.Asp1425* The antisense primers introducing the stop codon were the following: A1440X, 5Ј-TGATATCGGGC- CCCTATTGCCGGAAGAGGCTCCTCTCGTT-3Ј; S1435X, 5Ј-TGATAT- CGGGCCCCTACCTCTCGTTCAGCAGTTTCTGGATGG-3Ј; L1430X, 5Ј-TGATATCGGGCCCCTATTTCTGGATGGAATCGTACTGCCGCAC- 3Ј; D1425X, 5Ј-TGATATCGGGCCCCTAGTACTGCCGCACTTTGTTC- TCTTCTATG-3Ј; K1420X, 5Ј-TGATATCGGGCCCCTAGTTCTCTTCT- ATGACCAAAAATTGTTGGC-3Ј; V1415X, 5Ј-TGATATCGGGCCCCTA- CAAAAATTGTTGGCATTCCAGCATTGC-3Ј; C1410X, 5Ј-TGATATCG- * This work was supported by National Institutes of Health, NIDDK Grant DK54076 and a Fellowship from the Deutsche Forschungsgemeinschaft (to M. G.). Login to comment 33 ABCC7 p.Cys1395* ABCC7 p.Cys1400* ABCC7 p.Glu1405* ABCC7 p.Glu1405* ABCC7 p.Gln1390* ABCC7 p.Thr1380* 2, Issue of January 12, pp. 1291-1298, 2001 (c) 2001 by The American Society for Biochemistry and Molecular Biology, Inc. Printed in U.S.A. This paper is available on line at http://www.jbc.org GGCCCCTATTCCAGCATTGCTTCTATCCTGTGTTC-3Ј; E1405X, 5Ј- TGATATCGGGCCCCTATATCCTGTGTTCACAGAGAATTACTGTGC- 3Ј; C1400X, 5Ј-TGATATCGGGCCCCTAGAGAATTACTGTGCAATCA- GCAAATGC-3Ј; E1405X, 5Ј-TGATATCGGGCCCCTATATCCTGTGTT- CACAGAGAATTACTGTGC-3Ј; C1395X, 5Ј-TGATATCGGGCCCCTAA- TCAGCAAATGCTTGTTTTAGAGTTCTTC-3Ј; Q1390X, 5Ј-TGATATC- GGGCCCCTATTTTAGAGTTCTTCTAATTATTTGGTATGTTAC-3Ј; T1380X, 5Ј-TGATATCGGGCCCCTATACTGGATCCAAATGAGCACT- GGGTTC-3Ј. Login to comment 36 ABCC7 p.Asp1270Val The BprPI-ApaI fragment of the created plasmids was then used to replace the corresponding fragment of pNUT-D1270V CFTR. Login to comment 40 ABCC7 p.Cys1400Ala ABCC7 p.Cys1400Ala ABCC7 p.Glu1418Ala ABCC7 p.Glu1417Ala ABCC7 p.Glu1417Ala ABCC7 p.Glu1417Ala ABCC7 p.Glu1405Ala ABCC7 p.Leu1414Ala ABCC7 p.Leu1414Ala ABCC7 p.Leu1414Ala ABCC7 p.Leu1414Ala ABCC7 p.Leu1414Ala ABCC7 p.Phe1413Ala ABCC7 p.Phe1413Ala ABCC7 p.Phe1413Ala ABCC7 p.Phe1413Ala ABCC7 p.Asp1394Ala ABCC7 p.Ile1404Ala ABCC7 p.Ile1404Ala ABCC7 p.His1402Ala ABCC7 p.His1402Ala ABCC7 p.Gln1390Ala ABCC7 p.Glu1401Ala ABCC7 p.Glu1401Ala ABCC7 p.Gln1411Ala ABCC7 p.Phe1392Ala ABCC7 p.Arg1403Ala ABCC7 p.Arg1403Ala ABCC7 p.Val1415Ala ABCC7 p.Val1415Ala ABCC7 p.Val1415Ala ABCC7 p.Val1415Ala ABCC7 p.Val1415Ala ABCC7 p.Gln1412Ala ABCC7 p.Ile1416Ala ABCC7 p.Ile1416Ala ABCC7 p.Ile1416Ala ABCC7 p.Ile1416Ala F1413A/ L1414A/V1415A/I1416A/E1417A, 5Ј-GCTGGAATGCCAACAAGCTGC- GGCCGCAGCAGAGAACAAAGTGCGG-3Ј and 5Ј-CCGCACTTTGTTC- TCTGCTGCGGCCGCAGCTTGTTGGCATTCCAGC-3Ј; F1413A- /L1414A/V1415A/I1416A, 5Ј-GCTGGAATGCCAACAAGCTGCGGCCG- CAGAAGAGAACAAAGTGCGG-3Ј and 5Ј-CCGCACTTTGTTCTCTTC- TGCGGCCGCAGCTTGTTGGCATTCCAGC-3Ј; Q1411A/Q1412A, 5Ј-G- GATAGAAGCAATGCTGGAATGCGCAGCATTTTTGGTCATAGAAG-3 and 5Ј-CTTCTATGACCAAAAATGCTGCGCATTCCAGCATTGCTTCT- ATCC-3; F1413A/L1414A, 5Ј-GCTGGAATGCCAACAAGCTGCGGTCA- TAGAAGAGAACAAAGTGCG-3Ј and 5Ј-CGCACTTTGTTCTCTTCTA- TGACCGCAGCTTGTTGGCATTCCAGC-3Ј; L1414A/V1415A, 5Ј-GCT- GGAATGCCAACAATTTGCGGCCATAGAAGAGAACAAAGTGCGG-3Ј and 5Ј-CCGCACTTTGTTCTCTTCTATGGCCGCAAATTGTTGGCATT- CCAGC-3Ј; V1415A/I1416A, 5Ј-GGAATGCCAACAATTTTTGGCCGCA- GAAGAGAACAAAGTGCGGCAG-3Ј and 5Ј-CTGCCGCACTTTGTTCT- CTTCTGCGGCCAAAAATTGTTGGCATTCC-3Ј; E1417A/E1418A, 5Ј- GCCAACAATTTTTGGTCATAGCAGCGAACAAAGTGCGGCAGTAC- G-3Ј and 5Ј-CGTACTGCCGCACTTTGTTCGCTGCTATGACCAAAAA- TTGTTGGC-3Ј; F1413A, 5Ј-GCAATGCTGGAATGCCAACAAGCTTTG- GTCATAGAAGAGAAC-3Ј and 5Ј-GTTCTCTTCTATGACCAAAGCTT- GTTGGCATTCCAGCATTGC-3Ј; L1414A, 5Ј-GCTGGAATGCCAACAA- TTTGCGGTCATAGAAGAGAACAAAGTGCG-3Ј and 5Ј-CGCACTTTG- TTCTCTTCTATGACCGCAAATTGTTGGCATTCCAGC-3Ј; V1415A, 5Ј- GGAATGCCAACAATTTTTGGCCATAGAAGAGAACAAAGTGCGGC- AG-3Ј and 5Ј-CTGCCGCACTTTGTTCTCTTCTATGGCCAAAAATTGT- TGGCATTCC-3Ј; I1416A, 5Ј-GGAATGCCAACAATTTTTGGTCGCAG- AAGAGAACAAAGTGCGGCAG-3Ј and 5Ј-CTGCCGCACTTTGTTCTC- TTCTGCGACCAAAAATTGTTGGCATTCC-3Ј; E1417A, 5Ј-GCCAACA- ATTTTTGGTCATAGCAGAGAACAAAGTGCGGCAGTACG-3Ј and 5Ј- CGTACTGCCGCACTTTGTTCTCTGCTATGACCAAAAATTGTTGGC- 3Ј; C1400A/E1401A/H1402A/R1403A/I1404A, 5Ј-GCACAGTAATTCTC- GCTGCAGCCGCGGCAGAAGCAATGCTGGAATGCC-3Ј and 5Ј-GGC- ATTCCAGCATTGCTTCTGCCGCGGCTGCAGCGAGAATTACTGTG- C-3Ј; ⌬1400-1404: 5Ј-GCATTTGCTGATTGCACAGTAATTCTCGAAG- CAATGCTGGAATGCC-3Ј and 5Ј-GGCATTCCAGCATTGCTTCGAGA- ATTACTGTGCAATCAGCAAATGC-3Ј; C1400A/E1401A, 5Ј-GATTGC- ACAGTAATTCTCGCTGCACACAGGATAGAAGCAATGC-3Ј and 5Ј-G- CATTGCTTCTATCCTGTGTGCAGCGAGAATTACTGTGCAATC-3Ј; H1402A/R1403A, 5Ј-CAGTAATTCTCTGTGAAGCCGCGATAGAAGC- AATGCTGGAATGCC-3Ј and 5Ј-GGCATTCCAGCATTGCTTCTATCG- CGGCTTCACAGAGAATTAC TG-3Ј; I1404A/E1405A, 5Ј-CTCTGTGA- ACACAGGGCAGCAGCAATGCTGGAATGCCAAC-3Ј and 5Ј-GTTGGC- ATTCCAGCATTGCTGCTGCCCTGTGTTCACAGAG-3Ј, Q1390A/A- 1391A/F1392A/A1393A/D1394A, 5Ј-GAAGAACTCTAAAAGCAGCAG- CTGCTGCTTGCACAGTAATTCTC-3Ј and 5Ј-GAGAATTACTGTGCA- AGCAGCAGCTGCTGCTTTTAGAGTTCTTC-3Ј. Login to comment 41 ABCC7 p.Asp1270Val The BprPI-ApaI fragment of pBQ 4.7 M1475VCFTR and the derived mutated plasmids were used to replace the corresponding fragment of pNUT-D1270V CFTR. Login to comment 178 ABCC7 p.Tyr1424Ala In addition to the lack of influence of truncation at residue 1420, alanine substitution of Tyr1424 and Leu1430 -Leu1431 also did not alter the steady state amount of nascent or mature CFTR (not shown). Login to comment 229 ABCC7 p.Leu1399* However, the frameshift 4326de1TC resulting in truncation at residue 1398 and the premature stop L1399X also remove region II and hence also compromise the stability and ability to mature of the nascent chain. Login to comment 235 ABCC7 p.Ser1455* Another truncation detected in a family where the sweat gland may be the sole tissue effected, S1455X (42), would not influence the turnover of either form of CFTR. Login to comment