ABCMdb

ABCC8 p.Gly70Ala

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Publications

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

No. Sentence Comment

274 The NCF2 gene (OMIM number 233710) mapped to 1q25 possesses 16 exons (Table 1) Table 4 Mutations in the CYBA gene causing A22 CGD Mutation n° cDNA nucleotide change Mutation type Amino acid change CGD type References 1 Large deletion >10 kb Deletion ND A220 [37] 2 5' intron 1(-4) agtg deleted Deletion Insertion 79 bp of intron 1 at the beginning of exon 2 A220 [41, 199] 3 Exon 2-exon 3 Deletion ND A220 [114] 4 C7T Nonsense Gln3stop A220 [41, 115] 5 G26A Nonsense Trp9stop A220 [114] 6 G27A Nonsense Trp9stop A220 [41] 7 G70A Missense Gly24Arga A220 [114] 8 G71A Missense Gly24Arga A220 [41] 9 G74T Missense Gly25Vala A220 [114] 10 G107A Nonsense Trp36stop A220 [114] 11 T155C Missense Leu52Proa A220 [114] 12 A158T Missense Glu53Vala A220 [112] 13 C between 162C and 166C Insertion Frameshift A220 [114] 14 G between 166G and 172G Insertion Frameshift A220 [110, 112] 15 5' intron 3 gt→tt Splice site Exon 3 deleted A220 [114] 16 244C Deletion Frameshift A220 [37, 114] 17 C268T Missense Arg90Trpa A220 [114] 18 G269A Missense Arg90Glna A220 [37] 19 A281G Missense His94Arga A220 [110] 20 5' intron 4 gt→at Splice site Exon 4 deleted A220 [110] 21 C354A Missense Ser118Arga A220 [37, 114] 22 36-bp deletion between 5' intron 4 and 3' exon 5 Deletion 179-bp insertion of 3' intron 4 + 21-bp deletion of 5' exon 5 A220 [116] 23 267-273 deletion from exon 5 Deletion Frameshift A220 [117, 118] 24 5' intron 5 gt→ct Splice site Exon 5 deleted A220 [113] 25 C371T Missense Ala124Vala A220 [41, 92] 26 C467A Missense Pro156Glna A22+ [109, 111] 27 472-484 deletion from exon 6 Deletion Frameshift A220 [45] 28 34-bp deletion from exon 6 Deletion Frameshift A220 [41] Numbering from the ATG. Login to comment