PMID: 15698946

des Georges M, Guittard C, Altieri JP, Templin C, Sarles J, Sarda P, Claustres M
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
J Cyst Fibros. 2004 Dec;3(4):265-72., [PubMed]
Sentences
No. Mutations Sentence Comment
2 ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:2:132
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15698946:2:122
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:2:113
status: NEW
view ABCC7 p.Gly542* details
The frequency of p.F508del was 60.23% in L-R versus 67.18% in the whole country and only five other mutations (p.G542X, p.N1303K, p.R334W, c.1717-1GNA, c.711+1GNT) had a frequency higher than 1%. Login to comment
38 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15698946:38:289
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:38:298
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 15698946:38:326
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15698946:38:221
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15698946:38:280
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:38:317
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 15698946:38:382
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15698946:38:231
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:38:212
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 15698946:38:307
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 15698946:38:391
status: NEW
view ABCC7 p.Ser1251Asn details
ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 15698946:38:401
status: NEW
view ABCC7 p.Glu60* details
The 20 most common mutations responsible for CF worldwide were investigated by amplification refractory mutation system (ARMS) and migration on agarose gel (Kit Elucigene CF20, including mutations c.1717-1GNA, p.G542X, p.W1282X, p.N1303K, p.F508del, c.3849+10kbCNT, c.621+1GNT, p.R553X, p.G551D, p.R117H, p.R1162X, p.R334W, p.A455E, c.2183AANG, c.3659delC, c.1078delT, p.I507del, p.R347P, p.S1251N, p.E60X). Login to comment
55 ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:55:109
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:55:111
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15698946:55:93
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:55:76
status: NEW
view ABCC7 p.Gly542* details
Five other mutations were found with a relative frequency higher than 1%: p.G542X (5.35%), p.N1303K (3.%), p.R334W (1.63%), c.1717-1GNA (1.40%) and c.711+1GNT (1.16%) (Table 1). Login to comment
56 ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:56:64
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15698946:56:54
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:56:45
status: NEW
view ABCC7 p.Gly542* details
From Fig. 1, it can be seen that mutations p.G542X, p.N1303K, p.R334W and c.711+1GNT are more common in Mediterranean areas than in the whole country. Login to comment
66 ABCC7 p.Thr582Ile
X
ABCC7 p.Thr582Ile 15698946:66:222
status: NEW
view ABCC7 p.Thr582Ile details
Four patients were diagnosed at age 30, 32, 34 and 41 years and the extreme age at diagnosis was 70 years, in a male who was diagnosed initially for bronchiectasis and was carrying a 5T allele in trans of a novel missense T582I. Login to comment
68 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15698946:68:741
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:68:183
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15698946:68:761
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:68:425
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 15698946:68:444
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:68:700
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Glu585*
X
ABCC7 p.Glu585* 15698946:68:866
status: NEW
view ABCC7 p.Glu585* details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 15698946:68:346
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 15698946:68:721
status: NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15698946:68:125
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 15698946:68:202
status: NEW
view ABCC7 p.Tyr122* details
ABCC7 p.Pro67Leu
X
ABCC7 p.Pro67Leu 15698946:68:86
status: NEW
view ABCC7 p.Pro67Leu details
ABCC7 p.Arg792*
X
ABCC7 p.Arg792* 15698946:68:1123
status: NEW
view ABCC7 p.Arg792* details
ABCC7 p.Gln220*
X
ABCC7 p.Gln220* 15698946:68:365
status: NEW
view ABCC7 p.Gln220* details
ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 15698946:68:1419
status: NEW
view ABCC7 p.Tyr1092* details
ABCC7 p.Ser945Leu
X
ABCC7 p.Ser945Leu 15698946:68:1262
status: NEW
view ABCC7 p.Ser945Leu details
ABCC7 p.Lys710*
X
ABCC7 p.Lys710* 15698946:68:1037
status: NEW
view ABCC7 p.Lys710* details
ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 15698946:68:594
status: NEW
view ABCC7 p.Phe508Cys details
ABCC7 p.Asp443Tyr
X
ABCC7 p.Asp443Tyr 15698946:68:508
status: NEW
view ABCC7 p.Asp443Tyr details
ABCC7 p.Ile506Thr
X
ABCC7 p.Ile506Thr 15698946:68:527
status: NEW
view ABCC7 p.Ile506Thr details
ABCC7 p.Asp836Tyr
X
ABCC7 p.Asp836Tyr 15698946:68:1163
status: NEW
view ABCC7 p.Asp836Tyr details
ABCC7 p.Asp993Tyr
X
ABCC7 p.Asp993Tyr 15698946:68:1282
status: NEW
view ABCC7 p.Asp993Tyr details
ABCC7 p.Gln98Arg
X
ABCC7 p.Gln98Arg 15698946:68:165
status: NEW
view ABCC7 p.Gln98Arg details
ABCC7 p.Lys830*
X
ABCC7 p.Lys830* 15698946:68:1143
status: NEW
view ABCC7 p.Lys830* details
ABCC7 p.Leu227Arg
X
ABCC7 p.Leu227Arg 15698946:68:384
status: NEW
view ABCC7 p.Leu227Arg details
ABCC7 p.Ile175Val
X
ABCC7 p.Ile175Val 15698946:68:298
status: NEW
view ABCC7 p.Ile175Val details
ABCC7 p.Thr582Ile
X
ABCC7 p.Thr582Ile 15698946:68:846
status: NEW
view ABCC7 p.Thr582Ile details
ABCC7 p.Tyr161Asn
X
ABCC7 p.Tyr161Asn 15698946:68:221
status: NEW
view ABCC7 p.Tyr161Asn details
ABCC7 p.Ser776*
X
ABCC7 p.Ser776* 15698946:68:1080
status: NEW
view ABCC7 p.Ser776* details
of chromosomes (frequency %) p.M1V 1 1 (0.23) p.M1K 1 1 (0.23) c.300delA 3 1 (0.23) p.P67L 3 1 (0.23) c.359insT 3 1 (0.23) p.G85E 3 3 (0.70) c.394delTT 3 1 (0.23) p.Q98R 4 1 (0.23) p.R117H 4 2 (0.47) p.Y122X 4 2 (0.47) p.Y161N 4 1 (0.23) c.621+1GNT intron 4 1 (0.23) c.621+2TNG intron 4 1 (0.23) p.I175V 5 2 (0.47) c.711+1GNT intron 5 5 (1.16) p.L206W 6 3 (0.70) p.Q220X 6 1 (0.23) p.L227R 6 1 (0.23) c.1078delT 7 2 (0.47) p.R334W 7 7 (1.63) p.R347P 7 2 (0.47) c.1215delG 7 1 (0.23) c.T5 intron 8 1 (0.23) p.D443Y 9 1 (0.23) p.I506T 10 1 (0.23) p.I507del 10 4 (0.93) p.F508del 10 259 (60.23) p.F508C 10 1 (0.23) c.1677delTA 10 1 (0.23) c.1717-8GNA intron 10 1 (0.23) c.1717-1GNA intron 10 6 (1.40) p.G542X 11 23 (5.35) p.S549R 11 1 (0.23) p.G551D 11 2 (0.47) p.R553X 11 1 (0.23) c1811+1.6kbANG intron 11 4 (0.93) c.1812-1GNA intron 11 1 (0.23) p.T582I 12 1 (0.23) p.E585X 12 2 (0,47) c.1898+1GNA intron 12 1 (0.23) [c.1898+5GNA ;p.E725K] intron 12 1 (0.23) c.1898+73TNG intron 12 1 (0.23) c.2183AANG 13 4 (0.93) c.2184insA 13 1 (0.23) p.K710X 13 4 (0.93) c.2423delG 13 1 (0.23) p.S776X 13 1 (0.23) c.2493ins8 13 1 (0.23) p.R792X 13 1 (0.23) p.K830X 13 1 (0.23) p.D836Y 14a 1 (0.23) p.W846X1 14a 1 (0.23) c.2711delT 14a 1 (0.23) c.2789+5GNA intron 14b 3 (0.70) p.S945L 15 3 (0.70) p.D993Y 16 1 (0.23) c.3129del4 17a 1 (0.23) c.3195del6 17a 1 (0.23) c.3272-26ANG intron 17a 1 (0.23) [c.3395insA ;pI148T] 17b/4 1 (0,23) p.Y1092X 17b 3 (0.70) Table 1 (continued) Mutation Location exon/intron No. Login to comment
69 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15698946:69:248
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 15698946:69:227
status: NEW
view ABCC7 p.Gly1244Glu details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15698946:69:290
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 15698946:69:74
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Arg1158*
X
ABCC7 p.Arg1158* 15698946:69:53
status: NEW
view ABCC7 p.Arg1158* details
ABCC7 p.Asn1303His
X
ABCC7 p.Asn1303His 15698946:69:269
status: NEW
view ABCC7 p.Asn1303His details
ABCC7 p.Ile1234Val
X
ABCC7 p.Ile1234Val 15698946:69:141
status: NEW
view ABCC7 p.Ile1234Val details
ABCC7 p.Glu1104*
X
ABCC7 p.Glu1104* 15698946:69:31
status: NEW
view ABCC7 p.Glu1104* details
ABCC7 p.Gln1313*
X
ABCC7 p.Gln1313* 15698946:69:312
status: NEW
view ABCC7 p.Gln1313* details
of chromosomes (frequency %) p.E1104X 17b 2 (0.47) p.R1158X 19 3 (0.70) p.R1162X 19 2 (0.47) c.3659delC 19 1 (0.23) c.3737delA 19 2 (0.47) p.I1234V 19 1 (0.23) c.3849+10kbCNT intron 19 4 (0.93) c.3850-1GNA intron 19 1 (0.23) p.G1244E 20 1 (0.23) p.W1282X 20 2 (0.47) p.N1303H 21 1 (0.23) p.N1303K 21 13 (3.02) p.Q1313X 21 1 (0.23) c.4382delA 24 1 (023) Mutations described for the first time by our laboratory appear in bold. Login to comment
75 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:75:275
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:75:324
status: NEW
view ABCC7 p.Arg117His details
The IRT-1 concentrations were higher than the cutoff in 1299 samples (0.77%) and were followed by the genetic test which detected 11 cases with two mutations: eight were homozygous for the mutation p.F508del, two were compound heterozygotes (p.I507del+p.R334W and p.G542X+ p.R117H) and one was homozygous for the mutation p.R117H associated with the 7T allele in the intron 8 polythymidine sequence (IVS8) (Table 2). Login to comment
83 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:83:550
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:83:602
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:83:624
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:83:526
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:83:457
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:83:540
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gln220*
X
ABCC7 p.Gln220* 15698946:83:663
status: NEW
view ABCC7 p.Gln220* details
ABCC7 p.Lys710*
X
ABCC7 p.Lys710* 15698946:83:498
status: NEW
view ABCC7 p.Lys710* details
ABCC7 p.Glu1104*
X
ABCC7 p.Glu1104* 15698946:83:576
status: NEW
view ABCC7 p.Glu1104* details
ABCC7 p.Glu1104*
X
ABCC7 p.Glu1104* 15698946:83:587
status: NEW
view ABCC7 p.Glu1104* details
Table 2 Genotypes identified by newborn screening in 19 affected babies IRT (ng/ml) Genotypes 118 [p.F508del]+[p.F508del]a 163 [p.F508del]+[p.F508del]a N130 [p.F508del]+[p.F508del]b N130 [p.F508del]+[p.F508del]b N130 [p.F508del]+[p.F508del]b 155 [p.F508del]+[p.F508del]a 166 [p.F508del]+[p.F508del]a 109 [p.F508del]+[p.F508del]a 110 [p.F508del]+[p.F508del]a 136 [p.F508del]+[c.3007delG]a 160 [p.F508del]+[c.2622+1GNA]a 129 [p.F508del]+[c.3850-1GNA]a 151 [p.G542X]+[c.2380del8]a 131 [c.1078delT]+[p.K710X]a N130 [p.I507del]+[p.R334W]b 75 [p.G542X]+[p.R117H ;c1342-6 T7]b MI [p.E1104X]+[p.E1104X]b 84 [p.R117H; c1342-6 T7]+[p.R117H; c1342-6 T7]a 99 [c.2183AANG]+[p.Q220X]a IRT: Immunoreactive trypsinogen (cutoff: 65 ng/ml). Login to comment
87 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:87:14
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:87:86
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gln220*
X
ABCC7 p.Gln220* 15698946:87:58
status: NEW
view ABCC7 p.Gln220* details
ABCC7 p.Gln220*
X
ABCC7 p.Gln220* 15698946:87:130
status: NEW
view ABCC7 p.Gln220* details
ABCC7 p.Lys710*
X
ABCC7 p.Lys710* 15698946:87:23
status: NEW
view ABCC7 p.Lys710* details
ABCC7 p.Lys710*
X
ABCC7 p.Lys710* 15698946:87:95
status: NEW
view ABCC7 p.Lys710* details
M. des Georges et al. / Journal of Cystic Fibrosis 3 (2004) 265-272268 in trans of p.G542X, p.K710X in trans of c.1078delT and p.Q220X in trans of c.2183AANG (Table 2). Login to comment
89 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15698946:89:68
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:89:151
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:89:178
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:89:83
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15698946:89:52
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:89:37
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 15698946:89:134
status: NEW
view ABCC7 p.Arg1162* details
The mutation was p.F508del (n=47), p.G542X (n=5), p.N1303K (n=4), p.G551D (n=2), p.R334W (n=2), c.1717- 1NA (n=1), p.I507del (n=1), p.R1162X (n=1), [p.R117H;IVS8-T7] (n=8) or [p.R117H;IVS8-T5] (n=1). Login to comment
93 ABCC7 p.Glu1104*
X
ABCC7 p.Glu1104* 15698946:93:186
status: NEW
view ABCC7 p.Glu1104* details
After complete DGGE scanning followed by the sequencing of exon 17b, this neonate born from consanguineous parents of North African descent was found to be homozygous for the mutation p.E1104X. Login to comment
108 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15698946:108:87
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15698946:108:160
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15698946:108:47
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15698946:108:120
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Trp846*
X
ABCC7 p.Trp846* 15698946:108:99
status: NEW
view ABCC7 p.Trp846* details
ABCC7 p.Trp846*
X
ABCC7 p.Trp846* 15698946:108:172
status: NEW
view ABCC7 p.Trp846* details
M. des Georges et al. / Journal of Cystic Fibrosis 3 (2004) 265-272 269 other French regions, such as c.394delTT and p.R553X in Northern France, c.1078delT, p.G551D and p.W846X in Brittany, or c3905insT in Eastern France [4] were found at very low rates in South. Login to comment
130 ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 15698946:130:164
status: NEW
view ABCC7 p.Tyr1092* details
In southern France, 4 of these 10 additional mutations have a relative frequency above 0.5%: c.711+1GNT (1.16%), c.1811+1.6kbANG (0.93%), c.2789+5GNA (0.70%) and p.Y1092X (0.70%). Login to comment
131 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15698946:131:119
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:131:128
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 15698946:131:156
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15698946:131:51
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15698946:131:110
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15698946:131:147
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 15698946:131:212
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15698946:131:61
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15698946:131:42
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 15698946:131:137
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 15698946:131:221
status: NEW
view ABCC7 p.Ser1251Asn details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15698946:131:331
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 15698946:131:339
status: NEW
view ABCC7 p.Tyr122* details
ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 15698946:131:239
status: NEW
view ABCC7 p.Tyr1092* details
ABCC7 p.Trp846*
X
ABCC7 p.Trp846* 15698946:131:348
status: NEW
view ABCC7 p.Trp846* details
ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 15698946:131:231
status: NEW
view ABCC7 p.Glu60* details
The panel of 30 mutations (c.1717-1GNA, p.G542X, p.W1282X, p.N1303K, p.F508del, c.3849+10kbCNT, c.621+1GNT, p.R553X, p.G551D, p.R117H, p.R1162X, p.R334W, p.A455E, c.2183AANG, c.3659delC, c.1078delT, p.I507del, p.R347P, p.S1251N, p.E60X, p.Y1092X, c.394delTT, c.1811+1.6kbANG, c.3272-26ANG, c.2789+5GNA, c.3120+1GNA, c.711+ 1GNT, p.G85E, p.Y122X, p.W846X) should account for 83.32% of the CF alleles in L-R and 84.25% in the whole country. Login to comment
158 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:158:35
status: NEW
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We found the frequency of mutation R117H (12.16%) higher in the heterozygous neonates than in the CF population in France (0.16%) or in L-R (0.47%). Login to comment
159 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15698946:159:0
status: NEW
view ABCC7 p.Arg117His details
R117H- 7T is associated with a broad phenotypic range, from CF with suppurative lung disease to no clinical disease. Login to comment