ABCMdb

ABCC8 p.Ala1256Thr

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Publications

PMID: 18509647 [PubMed] Stasia MJ et al: "Genetics and immunopathology of chronic granulomatous disease."

No. Sentence Comment

316 However, a control blood sample carried and preserved in the same manner as the patient`s sample and a control fresh Table 5 Mutations in the NCF2 gene causing A67 CGD Mutation n° cDNA nucleotide change Mutation type Amino acid change CGD type Reference 1 11to 13-kb deletion AAGAAGGAC Deletion ND A67-a [128, 129] 2 55-63 deletion Deletion 19-21 LysLysAsp A670 [132, 133] 3 G130C Missense Gly44Argb A670 [92] 4 170-172 or 171-173 or 172-174 deletion Deletion 58Lysb A67-a [128, 129] 5 C196T Nonsense Arg66stop A670 [133] 6 G230A Missense Arg77Glnb A670 [133] 7 G233A Missense Gly78Glub A670 [125] 8 5' intron 3 GT→GC Splice site Deletion of exon 3 A670 [126] 9 C298T Nonsense Gln100stop A670 [133] 10 C304T Nonsense Arg102stop A670 [132] 11 5' intron 4 GT→AT Splice site Del of Ex 3 and 4 or ex 4 or 5 nucleotides of 3' exon 4 A670 [132, 133] 12 C383T Missense Ala128Valb A670 [133] 13 AG after 397A (or 399G) Insertion Frameshift A670 [127] 14 A479T and A481G Dle missense AspLys160-161 ValGlu A670 [131] 15 728A Deletion Frameshift A670 [132] 16 835-836 AC Deletion Frameshift A670 [133] 17 5' intron 9 GT→AT Splice site Del of exons 8 and 9 A670 [130] 18 1,169-1,173 CTAAG Deletion Frameshift A670 [118, 132] 19 Duplication of 1.1 kb including ex 9 and ex 10 Insertion Low amount of abnormal mRNA A670 [138] 20 C1250T Missense Arg395Trpb A67c [43] 21 A1256T Missense Asp419Ileb A67c [117] Numbering from the ATG. Login to comment