ABCC7 p.Arg1066Gly
| ClinVar: |
c.3197G>A
,
p.Arg1066His
D
, Pathogenic
c.3197G>T , p.Arg1066Leu ? , not provided c.3196C>A , p.Arg1066Ser ? , not provided c.3196C>T , p.Arg1066Cys D , Pathogenic |
| CF databases: |
c.3197G>A
,
p.Arg1066His
D
, CF-causing ; CFTR1: This mutation was found on one CF chromosome, the other haplotype carries an unidentified mutation. The child is twenty years old, pancreatic sufficient, that missense mutation could be considered as a mild allele.
c.3196C>T , p.Arg1066Cys D , CF-causing ; CFTR1: This mutation cannot be detected by restriction enzyme analysis, and they have been observed only once among 65 non-[delta]F508 CF chromosomes. c.3196C>G , p.Arg1066Gly (CFTR1) D , c.3196C>A , p.Arg1066Ser (CFTR1) ? , The above mutation was found by DGGE and direct sequencing in Caucasian patients. c.3197G>T , p.Arg1066Leu (CFTR1) ? , This is the third mutation describe at this codon 1066 which contains a CpG dinucleotide and appears to be a hot spot for mutations. The mutation was found once among more than 250 CF chromosomes we have analyzed in exon 17b. |
| Predicted by SNAP2: | A: D (95%), C: D (71%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (53%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Distribution of CFTR mutations in the Czech popula... J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29. Krenkova P, Piskackova T, Holubova A, Balascakova M, Krulisova V, Camajova J, Turnovec M, Libik M, Norambuena P, Stambergova A, Dvorakova L, Skalicka V, Bartosova J, Kucerova T, Fila L, Zemkova D, Vavrova V, Koudova M, Macek M, Krebsova A, Macek M Jr
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29., [PMID:23276700]
Abstract [show]
BACKGROUND: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. METHODS: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1 assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions. RESULTS: We identified 99.5% of all mutations (1194/1200 CFTR alleles) in the Czech CF population. Altogether 91 different CFTR mutations, of which 20 were novel, were detected. One case of de novo mutation and a novel polymorphism was revealed. CONCLUSION: The commercial assay achieved 90.7%, the MLPA added 1.0% and sequencing increased the detection rate by 7.8%. These comprehensive data provide a basis for the improvement of CF DNA diagnostics and/or newborn screening in our country. In addition, they are relevant to related Central European populations with lower mutation detection rates, as well as to the sizeable North American "Bohemian diaspora".
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No. Sentence Comment
62 There are over 10 million inhabitants in the country, which according to population genetic analyses, is a representative of the CE ethnic composition [3], with significant overlaps with Table 1 (continued) Mutations/HGVS nomenclature/ Mutations/traditional nomenclature, legacy name/ Legacy exon/intron No. of alleles % 65. c.2290CNT R764X# Ex13 1 0.08 66. c.2490+1GNA 2622+1GNA# In13 1 0.08 67. c.2538GNA W846X*# Ex14a 1 0.08 68. c.2551CNT R851X# Ex14a 1 0.08 69. c.2589_2599delAATTTGGTGCT 2721del11 Ex14a 1 0.08 70. c.2705delG 2837delG Ex15 1 0.08 71. c.2789delG 2921delG Ex15 1 0.08 72. c.2803_2813delCTACCACTGGT 2935del11 Ex15 1 0.08 73. c.2856GNC M952I Ex15 1 0.08 74. c.2991GNC L997F# Ex17a 1 0.08 75. c.3106delA 3238delA Ex17a 1 0.08 76. c.3136GNT E1046X Ex17a 1 0.08 77. c.3139GNC G1047R Ex17a 1 0.08 78. c.3196CNT R1066C*# Ex17b 1 0.08 79. c.3196CNG R1066G Ex17b 1 0.08 80. c.3302TNG M1101R Ex17b 1 0.08 81. c.3310GNA E1104K Ex17b 1 0.08 82. c.3353CNT S1118F Ex17b 1 0.08 83. c.3472CNT R1158X*# Ex19 1 0.08 84. c.3587CNG S1196X# Ex19 1 0.08 85. c.3708delT 3840delT Ex19 1 0.08 86. c.3937CNT Q1313X# Ex21 1 0.08 87. c.3971TNC L1324P Ex22 1 0.08 88. c.4003CNT L1335F Ex22 1 0.08 89. c.4004TNC L1335P Ex22 1 0.08 90. c.4097TNA I1366N Ex22 1 0.08 91. c.4426CNT Q1476X Ex24 1 0.08 92.
X
ABCC7 p.Arg1066Gly 23276700:62:860
status: NEW