PMID: 7521710

Ravnik-Glavac M, Glavac D, Dean M
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Hum Mol Genet. 1994 May;3(5):801-7., [PubMed]
Sentences
No. Mutations Sentence Comment
36 ABCC7 p.Trp57Gly
X
ABCC7 p.Trp57Gly 7521710:36:30
status: NEW
view ABCC7 p.Trp57Gly details
Mutations such as 300delA and W57G, which have nearly identical SSCP patterns can be distinguished by their heteroduplexes (Fig. lc and d). Login to comment
46 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7521710:46:146
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7521710:46:153
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg553Gln
X
ABCC7 p.Arg553Gln 7521710:46:160
status: NEW
view ABCC7 p.Arg553Gln details
ABCC7 p.Ile1234Val
X
ABCC7 p.Ile1234Val 7521710:46:167
status: NEW
view ABCC7 p.Ile1234Val details
ABCC7 p.Gln1291Arg
X
ABCC7 p.Gln1291Arg 7521710:46:138
status: NEW
view ABCC7 p.Gln1291Arg details
ABCC7 p.Glu827*
X
ABCC7 p.Glu827* 7521710:46:131
status: NEW
view ABCC7 p.Glu827* details
cd,e,f.gformatjon of heteroduplexes in DNA samples containing the following mutations increases the sensitivity to 100%: 1833delT; E827X; Q1291R; G551D, R553X, R553Q; I1234V, 3850-3T-G; respectively. Login to comment
48 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 7521710:48:110
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 7521710:48:120
status: NEW
view ABCC7 p.Arg352Gln details
As seen in Fig. 3a, on an MDE/sucrose gel of eight exon 7 mutations, DNAs containing two different mutations (R347P and R352Q) produced SSCPs almost identical to the wild type DNA. Login to comment
53 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 7521710:53:87
status: NEW
view ABCC7 p.Trp1282* details
All studied DNA samples had a mutation on one CF allele except for the DNA sample with W1282X, which is from a homozygous CF patient. Login to comment
59 ABCC7 p.Gln220*
X
ABCC7 p.Gln220* 7521710:59:89
status: NEW
view ABCC7 p.Gln220* details
ABCC7 p.Ser1255*
X
ABCC7 p.Ser1255* 7521710:59:203
status: NEW
view ABCC7 p.Ser1255* details
SSCP analysis of different CFTR gene regions on an MDE gel: (a) among exon 6a mutations, Q220X was hardly resolvable from the wild type; (b) all exon 17b mutations were distinguished on MDE gel; and (c) S1255X mutation of exon 20 is not resolvable from wild type. Login to comment
67 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7521710:67:62
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 7521710:67:82
status: NEW
view ABCC7 p.Arg560Thr details
On the other hand, it was hard to distinguish among mutations G551D (G-A at 1784) R560T t t t t t t t t ait- < •- " •- < t t t i » t t at •a Si t- £ 5 a Figure 5. Login to comment
69 ABCC7 p.Leu719*
X
ABCC7 p.Leu719* 7521710:69:49
status: NEW
view ABCC7 p.Leu719* details
ABCC7 p.Arg560Lys
X
ABCC7 p.Arg560Lys 7521710:69:15
status: NEW
view ABCC7 p.Arg560Lys details
ABCC7 p.Glu827*
X
ABCC7 p.Glu827* 7521710:69:83
status: NEW
view ABCC7 p.Glu827* details
(G-A at 1807), R560K (G-A at 1811) and mutations L719X (T-A), 2522insC, 2556insAT, E827X on exons 11 and 13, respectively, for all except one analysis condition (see Table 1). Login to comment
77 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 7521710:77:17
status: NEW
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ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 7521710:77:27
status: NEW
view ABCC7 p.Arg352Gln details
ABCC7 p.Leu327Arg
X
ABCC7 p.Leu327Arg 7521710:77:10
status: NEW
view ABCC7 p.Leu327Arg details
Mutations L327R, R347P and R352Q were better distinguished from wild type on gel with higher acrylamide concentration. Login to comment
97 ABCC7 p.Gln1291Arg
X
ABCC7 p.Gln1291Arg 7521710:97:113
status: NEW
view ABCC7 p.Gln1291Arg details
ABCC7 p.Glu827*
X
ABCC7 p.Glu827* 7521710:97:103
status: NEW
view ABCC7 p.Glu827* details
Mutations resolved due to specific heteroduplex bands on MDE/glycerol gels were for example: 1833delT, E827X and Q1291R. Login to comment
120 ABCC7 p.Arg74Trp
X
ABCC7 p.Arg74Trp 7521710:120:324
status: NEW
view ABCC7 p.Arg74Trp details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 7521710:120:886
status: NEW
view ABCC7 p.Ile148Thr details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 7521710:120:1154
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 7521710:120:373
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 7521710:120:362
status: NEW
view ABCC7 p.Arg75Gln details
ABCC7 p.Ala120Thr
X
ABCC7 p.Ala120Thr 7521710:120:821
status: NEW
view ABCC7 p.Ala120Thr details
ABCC7 p.Gln220*
X
ABCC7 p.Gln220* 7521710:120:1193
status: NEW
view ABCC7 p.Gln220* details
ABCC7 p.His199Tyr
X
ABCC7 p.His199Tyr 7521710:120:1082
status: NEW
view ABCC7 p.His199Tyr details
ABCC7 p.Gln39*
X
ABCC7 p.Gln39* 7521710:120:185
status: NEW
view ABCC7 p.Gln39* details
ABCC7 p.Gln30*
X
ABCC7 p.Gln30* 7521710:120:113
status: NEW
view ABCC7 p.Gln30* details
ABCC7 p.Glu92Lys
X
ABCC7 p.Glu92Lys 7521710:120:545
status: NEW
view ABCC7 p.Glu92Lys details
ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 7521710:120:289
status: NEW
view ABCC7 p.Glu60* details
ABCC7 p.Gln151*
X
ABCC7 p.Gln151* 7521710:120:926
status: NEW
view ABCC7 p.Gln151* details
ABCC7 p.Glu92*
X
ABCC7 p.Glu92* 7521710:120:581
status: NEW
view ABCC7 p.Glu92* details
ABCC7 p.Trp57Gly
X
ABCC7 p.Trp57Gly 7521710:120:242
status: NEW
view ABCC7 p.Trp57Gly details
ABCC7 p.Trp57*
X
ABCC7 p.Trp57* 7521710:120:278
status: NEW
view ABCC7 p.Trp57* details
ABCC7 p.Leu88*
X
ABCC7 p.Leu88* 7521710:120:426
status: NEW
view ABCC7 p.Leu88* details
ABCC7 p.Gly27*
X
ABCC7 p.Gly27* 7521710:120:70
status: NEW
view ABCC7 p.Gly27* details
ABCC7 p.His199Gln
X
ABCC7 p.His199Gln 7521710:120:1121
status: NEW
view ABCC7 p.His199Gln details
ABCC7 p.Arg31Leu
X
ABCC7 p.Arg31Leu 7521710:120:147
status: NEW
view ABCC7 p.Arg31Leu details
ABCC7 p.Leu88Ser
X
ABCC7 p.Leu88Ser 7521710:120:458
status: NEW
view ABCC7 p.Leu88Ser details
Exon 1: S4X (24), 186-13C-G (F£rec et al., pers. comm.); Exon 2: G27X (Shacldeton and Harris, pers. comm.), Q30X (Chilldn aal., pers. comm.), R31L (Zielenski et al., pers. comm.), Q39X (25); Exon 3: 300delA (Malone et al., pers. comm.), W57G (Ferrari et al., pers. comm.), W57X (26), E60X (Malone et al., pers. comm.), R74W (Claustres et al., pers. comm.), R75Q (27), G85E (28), 394delTT (Claustres et al., pers. comm.), L88X (Maceketal., pers. comm.), L88S (Malone et al., pers. comm.), 405 + 1G-A (Dork and Tummler, pers. comm.); Exon 4: E92K (Chillon et al., pers. comm.), E92X (D6rk a al., pers. comm.), P99L (Schwartz and Holmberg, pers. comm.), 441delA (Zielenski et al., pers. comm.), 444delA (29), 457TAT-C- (F£rec et al., pers. comm., (21), Dl 10H (14), Rl 17C (D6rk et al., pers. comm.), Rl 17H (14), A120T (Chillon et al., pers. comm.), 541delC (30), 556delA (28), I148T (Rininsland et al., pers. comm.), Q151X (Shacldeton et al., pers. comm.), 621 + 1C-T (28), 622-2A-C (31); Exon5:G178R (28), 681delC (Zielenski a al., pers. comm.), 711 + 1G-T (28); Exon 6a: H199Y (Dork and Tummler, pers. comm.), H199Q (Dean etal., pers. comm.), L206W (Claustres et al., pers. comm.), Q220X (Shacldeton and Harris, pers. comm., Schwartz and Holmberg, pers. comm.), 852del22 (32); Exon 6b: 977insA (33); Exon7:F311L(34). Login to comment
121 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7521710:121:350
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 7521710:121:501
status: NEW
view ABCC7 p.Pro574His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 7521710:121:1800
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7521710:121:357
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 7521710:121:57
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 7521710:121:92
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Trp1316*
X
ABCC7 p.Trp1316* 7521710:121:1883
status: NEW
view ABCC7 p.Trp1316* details
ABCC7 p.Arg347Leu
X
ABCC7 p.Arg347Leu 7521710:121:80
status: NEW
view ABCC7 p.Arg347Leu details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7521710:121:331
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 7521710:121:116
status: NEW
view ABCC7 p.Arg352Gln details
ABCC7 p.Glu831*
X
ABCC7 p.Glu831* 7521710:121:731
status: NEW
view ABCC7 p.Glu831* details
ABCC7 p.Gln493*
X
ABCC7 p.Gln493* 7521710:121:238
status: NEW
view ABCC7 p.Gln493* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 7521710:121:343
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 7521710:121:427
status: NEW
view ABCC7 p.Arg560Thr details
ABCC7 p.Met1101Lys
X
ABCC7 p.Met1101Lys 7521710:121:1397
status: NEW
view ABCC7 p.Met1101Lys details
ABCC7 p.Arg1070Gln
X
ABCC7 p.Arg1070Gln 7521710:121:1232
status: NEW
view ABCC7 p.Arg1070Gln details
ABCC7 p.Ser1235Arg
X
ABCC7 p.Ser1235Arg 7521710:121:1618
status: NEW
view ABCC7 p.Ser1235Arg details
ABCC7 p.Glu1371*
X
ABCC7 p.Glu1371* 7521710:121:1954
status: NEW
view ABCC7 p.Glu1371* details
ABCC7 p.Asn1303His
X
ABCC7 p.Asn1303His 7521710:121:1857
status: NEW
view ABCC7 p.Asn1303His details
ABCC7 p.Tyr1092*
X
ABCC7 p.Tyr1092* 7521710:121:1354
status: NEW
view ABCC7 p.Tyr1092* details
ABCC7 p.Ile1005Arg
X
ABCC7 p.Ile1005Arg 7521710:121:1027
status: NEW
view ABCC7 p.Ile1005Arg details
ABCC7 p.Ser1255*
X
ABCC7 p.Ser1255* 7521710:121:1721
status: NEW
view ABCC7 p.Ser1255* details
ABCC7 p.Ser977Pro
X
ABCC7 p.Ser977Pro 7521710:121:973
status: NEW
view ABCC7 p.Ser977Pro details
ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 7521710:121:1446
status: NEW
view ABCC7 p.Asp1152His details
ABCC7 p.Trp401*
X
ABCC7 p.Trp401* 7521710:121:152
status: NEW
view ABCC7 p.Trp401* details
ABCC7 p.Gly970Arg
X
ABCC7 p.Gly970Arg 7521710:121:952
status: NEW
view ABCC7 p.Gly970Arg details
ABCC7 p.Arg553Gln
X
ABCC7 p.Arg553Gln 7521710:121:369
status: NEW
view ABCC7 p.Arg553Gln details
ABCC7 p.His1085Arg
X
ABCC7 p.His1085Arg 7521710:121:1341
status: NEW
view ABCC7 p.His1085Arg details
ABCC7 p.Arg1066Leu
X
ABCC7 p.Arg1066Leu 7521710:121:1196
status: NEW
view ABCC7 p.Arg1066Leu details
ABCC7 p.Ile1234Val
X
ABCC7 p.Ile1234Val 7521710:121:1605
status: NEW
view ABCC7 p.Ile1234Val details
ABCC7 p.Tyr563Asn
X
ABCC7 p.Tyr563Asn 7521710:121:448
status: NEW
view ABCC7 p.Tyr563Asn details
ABCC7 p.Leu1077Pro
X
ABCC7 p.Leu1077Pro 7521710:121:1301
status: NEW
view ABCC7 p.Leu1077Pro details
ABCC7 p.Leu327Arg
X
ABCC7 p.Leu327Arg 7521710:121:15
status: NEW
view ABCC7 p.Leu327Arg details
ABCC7 p.Arg1066His
X
ABCC7 p.Arg1066His 7521710:121:1175
status: NEW
view ABCC7 p.Arg1066His details
ABCC7 p.Arg851*
X
ABCC7 p.Arg851* 7521710:121:766
status: NEW
view ABCC7 p.Arg851* details
ABCC7 p.Trp1098Arg
X
ABCC7 p.Trp1098Arg 7521710:121:1389
status: NEW
view ABCC7 p.Trp1098Arg details
ABCC7 p.Leu719*
X
ABCC7 p.Leu719* 7521710:121:645
status: NEW
view ABCC7 p.Leu719* details
ABCC7 p.Arg560Lys
X
ABCC7 p.Arg560Lys 7521710:121:393
status: NEW
view ABCC7 p.Arg560Lys details
ABCC7 p.Ser492Phe
X
ABCC7 p.Ser492Phe 7521710:121:226
status: NEW
view ABCC7 p.Ser492Phe details
ABCC7 p.Ala349Val
X
ABCC7 p.Ala349Val 7521710:121:104
status: NEW
view ABCC7 p.Ala349Val details
ABCC7 p.Ala1067Thr
X
ABCC7 p.Ala1067Thr 7521710:121:1183
status: NEW
view ABCC7 p.Ala1067Thr details
ABCC7 p.Gln1291Arg
X
ABCC7 p.Gln1291Arg 7521710:121:1813
status: NEW
view ABCC7 p.Gln1291Arg details
ABCC7 p.Cys866Tyr
X
ABCC7 p.Cys866Tyr 7521710:121:794
status: NEW
view ABCC7 p.Cys866Tyr details
ABCC7 p.Gln1238*
X
ABCC7 p.Gln1238* 7521710:121:1631
status: NEW
view ABCC7 p.Gln1238* details
ABCC7 p.Ala559Thr
X
ABCC7 p.Ala559Thr 7521710:121:381
status: NEW
view ABCC7 p.Ala559Thr details
ABCC7 p.Glu827*
X
ABCC7 p.Glu827* 7521710:121:709
status: NEW
view ABCC7 p.Glu827* details
ABCC7 p.Lys716*
X
ABCC7 p.Lys716* 7521710:121:633
status: NEW
view ABCC7 p.Lys716* details
ABCC7 p.His1054Asp
X
ABCC7 p.His1054Asp 7521710:121:1093
status: NEW
view ABCC7 p.His1054Asp details
ABCC7 p.Gly1061Arg
X
ABCC7 p.Gly1061Arg 7521710:121:1129
status: NEW
view ABCC7 p.Gly1061Arg details
ABCC7 p.Gln685*
X
ABCC7 p.Gln685* 7521710:121:598
status: NEW
view ABCC7 p.Gln685* details
ABCC7 p.Gly458Val
X
ABCC7 p.Gly458Val 7521710:121:188
status: NEW
view ABCC7 p.Gly458Val details
ABCC7 p.Glu1104*
X
ABCC7 p.Glu1104* 7521710:121:1245
status: NEW
view ABCC7 p.Glu1104* details
ABCC7 p.Asp36Lys
X
ABCC7 p.Asp36Lys 7521710:121:69
status: NEW
view ABCC7 p.Asp36Lys details
1078delT (35), L327R (Ravnik-Glavac a al., unpublished), R334W (36), D36K (31), R347L (26), R347P (14), A349V (26), R352Q (30), 1221delCT (34); Exon 8: W401X (31), 1342-1G-C (25); Exon 9: G458V (37), 1525 -1G-A (38); Exon 10: S492F (34), Q493X (39), 1609delCA (40,17), deltaI507 (39,41), deltaF5O8 (3), 1717-1G-A (39,42); Exon 11: G542X (39), S549N, G551D, R553X (43), R553Q (44), A559T (43), R560K (Fine et al., pers. comm.), R560T (39); Exon 12: Y563N (39), 1833delT (Schwartz et al., pers. comm.), P574H (39), 1898 + 1G-C (31), 1898+3A-G (Ferrari et al., pers. comm.); Exon 13: G628R(G-C) (31), Q685X (Firec et al., pers. comm.), K716X (26), L719X (Dork etal., pers. comm.), 2522insC (15), 2556insAT (45), E827X (34); Exon 14a: E831X (Ffrec et al., pers. comm.), R851X (29), 2721delll (31), C866Y (Audrezet et al., pers. comm.); Exon 14b: 2789+5G-A (Highsmith et al., pers. comm.); Exon 15: 2907denT (21), 2991del32 (Dark and TQmmler, pers. comm.), G970R (31); Exon 16: S977P, 3100insA (D6rk et al., pers. comm.); Exon 17a: I1005R (Dork and TQmmler, pers. comm.), 3272-1G-A (46); Exon 17b: H1054D (F6rec et al., pers. comm.), G1061R (Fdrec et al., pers. comm.), 332Oins5, R1066H, A1067T (34), R1066L (Fe"rec etal., pers. comm.), R1070Q (46), E1104X (Zielenski el al., pers. comm.), 3359delCT (46), L1077P (Bozon « a/., pers. comm.), H1085R (46), Y1092X (Bozon etal., pers. comm.), W1098R, M1101K (Zielenski et al., pers. comm.); Exon 18: D1152H (Highsmith et al., pers. comm.); Exon 19:R1162X (36), 3659delC (39), 3662delA (25), 3667del4 (Chillon et al., pers. comm.), 3737ddA (35), 3821ddT (15), I1234V (35), S1235R (31), Q1238X (26), 3849G-A (25), 385O-3T-G (38); Exon20:3860ins31 (Chillon etal., pers. comm.), S1255X (47), 3898insC (26), 3905insT (Malik et al., pers. comm.), D127ON (48), W1282X (49), Q1291R (Dork et al., pers. comm.), Exon 21: N1303H (35), N13O3K (50), W1316X (43); Exon 22: 11328L/4116delA (Dork and TQmmler, pers. comm.), E1371X (25); Exon 23: 4374+ 1G-T (38); Exon 24: 4382delA (Claustres et al., pers. comm.). Login to comment