ABCC7 p.Gly1047Arg
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PMID: 16275171
[PubMed]
Braun AT et al: "Cystic fibrosis mutations and genotype-pulmonary phenotype analysis."
No.
Sentence
Comment
2
Results: Two novel alleles were discovered, namely G1047R and 1525-2AYG, which were accompanied by F508del and G551D mutations, respectively.
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ABCC7 p.Gly1047Arg 16275171:2:51
status: NEW80 Thereafter, the longitudinal patterns of WCXR and BCXR for the two patients with novel mutations (i.e., G1047R and 1525-2AYG) were superimposed on the Table 1 Summary of patient characteristics Characteristics F508del homozygote group (n =38) Pancreatic sufficiency groupa (n =19) Sex Male 25 8 Female 13 11 Center Madison 21 12 Milwaukee 17 7 Group Screened 38 3 Control 0 14 Other 0 2 Meconium ileus Yes 6 0 No 32 19 Mean age at diagnosis (weeks)TS.D. 7.15T2.4 193.1T192 Mean sweat Cl mEq/lTS.D.
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ABCC7 p.Gly1047Arg 16275171:80:104
status: NEW101 Two novel mutations for North American CF patients were discovered during our investigation process, namely G1047R (patient #1) and 1525-2AYG (patient #2).
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ABCC7 p.Gly1047Arg 16275171:101:108
status: NEW119 G1047R describes a guanine to cytosine base-pair substitution in the 1047th codon which would lead to a missense mutation, changing glycine to arginine.
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ABCC7 p.Gly1047Arg 16275171:119:0
status: NEW122 The patient`s genotype of F508del/G1047R or class II/I would suggest a ''severe`` phenotype as both mutations lead to a loss of functional CFTR protein at the apical cell membrane.
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ABCC7 p.Gly1047Arg 16275171:122:34
status: NEW130 In addition, their spirometry results are also similar to the WCXRscore 0 5 10 15 20 25 30 F508del/F508del Pancreatic sufficiency Patient 1 (F508del/G1047R) WCXRscore 0 5 10 15 20 25 30 F508del/F508del Pancreatic sufficiency Patient 2 (G551D/1525-2A->G) 0 1 2 3 4 5 6 7 8 9 10 11 12 Age in years Fig. 3.
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ABCC7 p.Gly1047Arg 16275171:130:149
status: NEW176 The two novel mutations (G1047R and 1525-2AYG) are named following accepted recommendations [34].
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ABCC7 p.Gly1047Arg 16275171:176:25
status: NEW79 Thereafter, the longitudinal patterns of WCXR and BCXR for the two patients with novel mutations (i.e., G1047R and 1525-2AYG) were superimposed on the Table 1 Summary of patient characteristics Characteristics F508del homozygote group (n =38) Pancreatic sufficiency groupa (n =19) Sex Male 25 8 Female 13 11 Center Madison 21 12 Milwaukee 17 7 Group Screened 38 3 Control 0 14 Other 0 2 Meconium ileus Yes 6 0 No 32 19 Mean age at diagnosis (weeks)TS.D. 7.15T2.4 193.1T192 Mean sweat Cl mEq/lTS.D.
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ABCC7 p.Gly1047Arg 16275171:79:104
status: NEW100 Two novel mutations for North American CF patients were discovered during our investigation process, namely G1047R (patient #1) and 1525-2AYG (patient #2).
X
ABCC7 p.Gly1047Arg 16275171:100:108
status: NEW118 G1047R describes a guanine to cytosine base-pair substitution in the 1047th codon which would lead to a missense mutation, changing glycine to arginine.
X
ABCC7 p.Gly1047Arg 16275171:118:0
status: NEW121 The patient`s genotype of F508del/G1047R or class II/I would suggest a ''severe`` phenotype as both mutations lead to a loss of functional CFTR protein at the apical cell membrane.
X
ABCC7 p.Gly1047Arg 16275171:121:34
status: NEW129 In addition, their spirometry results are also similar to the WCXR score 0 5 10 15 20 25 30 F508del/F508del Pancreatic sufficiency Patient 1 (F508del/G1047R) WCXR score 0 5 10 15 20 25 30 F508del/F508del Pancreatic sufficiency Patient 2 (G551D/1525-2A->G) 0 1 2 3 4 5 6 7 8 9 10 11 12 Age in years Fig. 3.
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ABCC7 p.Gly1047Arg 16275171:129:150
status: NEW175 The two novel mutations (G1047R and 1525-2AYG) are named following accepted recommendations [34].
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ABCC7 p.Gly1047Arg 16275171:175:25
status: NEW
PMID: 23276700
[PubMed]
Krenkova P et al: "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."
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.
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ABCC7 p.Gly1047Arg 23276700:62:790
status: NEW
PMID: 25674778
[PubMed]
Baker MW et al: "Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study."
No.
Sentence
Comment
101
Because Wisconsin has genotype data on more than 500 patients with CF diagnosed through screening, we sought to understand how many CF cases have uncommon mutations not currently on the CFTR2 list; we found the five cases reported herein as well as other ones found previously, including G1047R, also referred to as 3139 G>C (c.3271G>C), Y849X (c.2679C>A), and 2043delG (c.2043delG).
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ABCC7 p.Gly1047Arg 25674778:101:288
status: NEW