ABCC8 p.Ala1256Thr
| Predicted by SNAP2: | C: N (57%), D: D (63%), E: D (66%), F: D (71%), G: N (72%), H: D (59%), I: D (71%), K: D (66%), L: N (53%), M: D (63%), N: N (72%), P: D (71%), Q: D (59%), R: D (63%), S: N (82%), T: N (78%), V: N (57%), W: D (85%), Y: D (75%), |
| Predicted by PROVEAN: | C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: N, 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
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.
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ABCC8 p.Ala1256Thr 18509647:316:1381
status: NEW