ABCMdb

PMID: 1381146

Fuller CM, Benos DJ
CFTR!
Am J Physiol. 1992 Aug;263(2 Pt 1):C267-86., [PubMed]

Sentences

No. Mutations Sentence Comment

222 ABCC7 p.Lys95Asp ABCC7 p.Lys335Asp Overexpression of CFTR bearing either a K95D mutation in TM1 or a K335D mutation in TM6 in HeLa cells resulted in a shift in ion selectivity of the CAMP- l Amino acid changes corresponding to mutations in the CF gene are given in single letter code, with the changed residue followed by residue position and the substituted amino acid. Login to comment 223 ABCC7 p.Gly551Ser Thus G55lS is a mutation of a glycine at position 551 to a serine. Login to comment 225 ABCC7 p.Asn369* Hence N369X is the change of an asparagine at residue position 369 to a termination codon, which should lead to a prematurely shortened protein. Login to comment 366 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Gly551Ser ABCC7 p.Gly551Ser ABCC7 p.Trp1316* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly458Val ABCC7 p.Asn369* AF508/AF508 G551D/G551D G542X/G458V G542X/G542X R553X/W1316X N369X/unknown R553X/R553X G551S/G551S G368Xlunknown AF508/R117H PI PI PI PI PI PI PI PS PS PS Severe 116 Severe 181 Severe 49 Mild 49 Mild 50 Mild 102 Moderate-Severe 13 Mild 181 Mild 102 Mild 55 Comparison of genotype with phenotype for some CF-associated mutations. Login to comment 367 ABCC7 p.Gly551Asp Amino acid mutations on each allele (where known) are given in single letter code; e.g., G551D refers to a glycine at position 551 that has been changed to an aspartic acid. Login to comment 416 ABCC7 p.Arg553* ABCC7 p.Gly542* Cutting et al. (50) have investigated two individuals heterozygous for two different nonsense mutations (S 1255X, G542X and Wl316X, R553X). Login to comment 418 ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly458Val Interestingly, an individual homozygous for the G542X mutation had milder clinical symptoms than a relative with severe CF who was heterozygous [G542X, G458V (49)]. Login to comment 419 ABCC7 p.Gly542* The G542X mutation falls near the end of the first NBF region; presumably the protein would be truncated after this point. Login to comment 420 ABCC7 p.Asn369* In another case, a frame shift caused the introduction of a stop codon at amino acid residue 369 (N369X), which falls between TM6 and the first NBF. Login to comment 425 ABCC7 p.Asn369* However, an individual who is translating an mRNA lacking the first NBF region altogether (AF508, N369X) would appear to be better off than one who is homozygous for AF508. Login to comment 436 ABCC7 p.Arg553* A recent study of CFTR mRNA levels in CF patients failed to detect any CFTR message from airway cells carrying the double nonsense mutation R553X/Wl316X. Login to comment 437 ABCC7 p.Arg553* ABCC7 p.Ser549Asn CFTR mRNA levels were also reduced in a compound nonsense/missense heterozygote (R553X/ S549N). Login to comment