ABCC7 p.Asn369*
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No.
Sentence
Comment
225
Hence N369X is the change of an asparagine at residue position 369 to a termination codon, which should lead to a prematurely shortened protein.
X
ABCC7 p.Asn369* 1381146:225:6
status: NEW366 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.
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ABCC7 p.Asn369* 1381146:366:61
status: NEW420 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.
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ABCC7 p.Asn369* 1381146:420:98
status: NEW425 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.
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ABCC7 p.Asn369* 1381146:425:98
status: NEW