ABCMdb

PMID: 18509647

Stasia MJ, Li XJ
Genetics and immunopathology of chronic granulomatous disease.
Semin Immunopathol. 2008 Jul;30(3):209-35. Epub 2008 May 29., [PubMed]

Sentences

No. Mutations Sentence Comment

274 ABCC8 p.Gly70Ala 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 316 ABCC8 p.Ala1256Thr 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