ABCC8 p.Gly70Ala
| Predicted by SNAP2: | A: D (53%), C: D (66%), D: D (80%), E: D (66%), F: D (63%), H: D (71%), I: N (66%), K: D (71%), L: N (78%), M: D (53%), N: N (61%), P: D (75%), Q: D (63%), R: D (66%), S: N (61%), T: D (53%), V: N (53%), W: D (85%), Y: D (66%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Genetics and immunopathology of chronic granulomat... Semin Immunopathol. 2008 Jul;30(3):209-35. Epub 2008 May 29. Stasia MJ, Li XJ
Genetics and immunopathology of chronic granulomatous disease.
Semin Immunopathol. 2008 Jul;30(3):209-35. Epub 2008 May 29., [PMID:18509647]
Abstract [show]
Chronic granulomatous disease (CGD) is a primary immunodeficiency syndrome characterized by a greatly increased susceptibility to severe fungal and bacterial infections. CGD results from a failure of the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme in the patient's phagocytes to produce superoxide. It is caused by mutations in any of four genes that encode the components of the NADPH oxidase. Investigation of CGD patients has identified the different subunits and the genes encoding them. Study of rare CGD variants has highlighted sequences involved in the structural stability of affected components or has provided valuable insights into their function in the oxidase activation mechanism. Functional and molecular CGD diagnosis tests are discussed in this review. Long-term antibiotic prophylaxis has been essential in fighting infections associated with CGD, but approaches based on hematopoietic stem cell transplantation and gene therapy offer great hope for the near future.
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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.
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ABCC8 p.Gly70Ala 18509647:274:529
status: NEW