ABCC7 p.Trp57Gly
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No.
Sentence
Comment
42
The following mutations have been studied: exon 3: W57G, R74W, R75Q, G85E, 394delTT, 405+ 1G>A; exon 4: E92X, P99L, 441delA, 444delA, 457TAT>G, D110H, R117C, R117H, A120T, 541delC, 544delCA, Q151X, 621+1G>T, 662- 2A>C; exon 7: 1078delT, F331L, R334W, I336K, R347C, R347P, A349V, R352Q, 1221delCT; exon 10: S492F, Q493X, 1609delCA, deltaI507, deltaF508; exon 11: G542X, S549N, G551D, R553X, A559T, R560K, R560T; exon 13: K716X, Q685X, G628R, L719X; exon 17b: H1054D, G1061R, 3320ins5, R1066H, R1066L, R1070Q, 3359delCT, L1077P, H1085R, Y1092X; exon 19: R1162X, 3659delC, 3662delA, 3667del4, 3737delA, I1234V, S1235R, 3849G>A; exon 20: 3860ins31,S1255X,3898insC,3905insT,D1270N, W1282X, Q1291R; and exon 21: N1303H, N1303K, W1316X.
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ABCC7 p.Trp57Gly 11933191:42:51
status: NEW69 profiles of two exon 3 mutations, W57G and R74W, did not resolve from those of the normal sample at the recommended temperature of 55°C (Fig. 2).
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ABCC7 p.Trp57Gly 11933191:69:34
status: NEW81 Two mutations (W57G and R74W) were not distinguished from the control sample at the temperature recommended by the MELT program.
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ABCC7 p.Trp57Gly 11933191:81:15
status: NEW100 Optimization of Temperature (OTm) for Undetected Mutations Nucleotide RTm OTm Exon Mutation change (°C) (°C) 3 W57G 301 T>G 55 57 R74W 352 C>T 55 57 7 R334W 1132 C>T 58 60 R347C 1171 C>T 58 60 10 Q493X 609 C>T 55 56 20 3905 insT 3905 insT 55 56 D1270N 3940 G>A 57 58 RTm, recommended temperature by the MELT program; OTm, optimized temperature.
X
ABCC7 p.Trp57Gly 11933191:100:121
status: NEW
PMID: 9895335
[PubMed]
Cremonesi L et al: "Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis."
No.
Sentence
Comment
31
Mutations and polymorphisms analyzed in the CFTR gene. Position Denaturant gradient Mutation Exon 1 40-90% 125G/Ca,b M1V (A3G at 133) 175insT 182delT Exon 3 10-60% W57G (T3G at 301) 356G/Aa G85E (G3A at 386) Exon 4 20-70% R117H (G3A at 482) 541delC 621ϩ1G3T I148T (T3C at 575) Exon 5 20-70% E193K (G3A at 709) Intron 5 20-70% 711ϩ3A3G Exon 7 20-70% 1078delT R334W (C3T at 1132) T338I (C3T at 1145) R347P (G3C at 1172)b R347H (G3A at 1172) R352Q (G3A at 1187) Exon 10 20-70% M470V (1540A/G)a ⌬F508 (del 3 bp at 1652) Intron 10 10-60% 1717-1G3A Exon 11 10-60% G542X (G3T at 1756) 1784delG R553X (C3T at 1789) Exon 12 10-60% D579G (A3G at 1868) E585X (G3T at 1885) Intron 12 10-60% 1898ϩ3A3G Exon 13 30-80% 2183AA3G E730X (G3T at 2320) L732X (T3G at 2327) 2347delG Exon 14a 10-60% T854T (2694T/G)a V868V (2736G/A)a Intron 14b 30-80% 2789ϩ5G3A Exon 15 20-70% M952I (G3C at 2988)b Exon 17a 20-70% L997F (G3C at 3123)b Exon 17b 20-70% F1052V (T3G at 3286) R1066C (C3T at 3328) R1066H (G3A at 3329) A1067T (G3A at 3331) Exon 18 20-70% D1152H (G3C at 3586)b Exon 19 30-80% R1158X (C3T at 3604) Exon 20 20-70% S1251N (G3A at 3384) W1282X (G3A at 3978) Exon 21 20-70% N1303K (C3G at 4041)b Exon 22 30-80% G1349D (G3A at 4178) 4382delA Exon 24 30-80% Y1424Y (4404C/T)a a Polymorphism.
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ABCC7 p.Trp57Gly 9895335:31:164
status: NEW
PMID: 7544319
[PubMed]
Brancolini V et al: "Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations."
No.
Sentence
Comment
41
Amongst these, three were previously unreported (W57G, D579G and E193K) (Fig. 1).
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ABCC7 p.Trp57Gly 7544319:41:49
status: NEW42 The remaining 19 included R352Q (Cremonesi et al. 1992) (three chromosomes), G85E (Zielenski et al. 1991a), Dl152H (High- Fig. 1 A-C Direct sequencing of PCR products from three cystic fibrosis patients (CF) carrying the W57G (A), E193K (B) and D579G (C) mutations, in parallel with control samples (C) displaying normal sequences (N/N) smith et al., personal communication to the CF Genetic Analysis Consortium), R1066H (Ferec et al. 1992), T338I (Saba et al. 1993), 711 +5G--+A (Gasparini et al., personal communication to the CF Genetic Analysis Consortium), M1V (Cheadle et al. 1993), R334W (Gasparini et al. 1991) (two chromosomes each), 4382delA (Claustres et al. 1993), R1158X (Ronchetto et al. 1992), F1052V (Mercier et al. 1993), G1349D (Beaudet et al. 1991), 1898+3A-+G (Cremonesi et al. 1992), $549N (Cutting et al. 1990), 711+ 3A-->G (Petreska et al. 1994), R347P (Dean et al. 1990), 2789+5G--+A (Highsmith et al. 1990), R1066C (Fanen et al. 1992) and S1251N (K~ilin et al. 1992) (one chromosome each).
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ABCC7 p.Trp57Gly 7544319:42:221
status: NEW44 The W57G mutation was a T301 to G transversion in exon 3 substituting tryptophan at position 57 with glycine, and was detected in a patient from Northern Italy (Lombardia) bearing the R352Q mutation on the other chromosome.
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ABCC7 p.Trp57Gly 7544319:44:4
status: NEWX
ABCC7 p.Trp57Gly 7544319:44:70
status: NEW65 31 The W57G mutation was not detected on an additional 132 CF and 50 normal chromosomes, D579G on an additional 115 CF and 50 normal chromosomes and E193K on an additional 108 CF and 54 normal chromosomes.
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ABCC7 p.Trp57Gly 7544319:65:7
status: NEW70 (UN yet unidentified mutation) Patient Genotype after Genotype at the end number preliminary screening of the analysis UN/UN M1V/4382delA 1717-1G---~A/UN 1717-1G---~A/R1066H AF508/UN AF508/D579G UN/UN M1V/UN AF508/UN AF508/UN UN/UN T338I/R1158X UN/UN G85E/71 I+5G---~A UN/UN D1152H/UN AF508/UN AF508/UN AF508/UN AF508/3849+ 10kbC---~T UN/UN 711+3A---~G/UN AF508/UN AF508/F1052V UN/UN R352Q/W57G UN/UN 1898+3A----~G/UN AF508/UN AF508/711+5G--~A G542X/UN G542X/DI 152H AF508/UN AF508/E193K 1717-1G---~A/UN 1717-1G---~A/2789+5A---)G AF508/UN AF508/G1349D AF508/UN AF508/G85E AF508/UN AF508/R347P AF508/UN AF508/R352Q AF508/UN AF508/R352Q AF508/UN AF508/S549N G542X/UN G542X/R1066H AF508/UN AF508/T338I AF508/UN AF508/R334W AF508/UN AF508/R334W AF508/UN AF508/S1251N AF508/UN AF508/R1066C AF508/UN AF508/D579G results) while the remaining three haplotypes had been found in association with other rare mutations, which were excluded by DGGE analysis in these patients (Table 3).
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ABCC7 p.Trp57Gly 7544319:70:390
status: NEW78 W57G was found in a patient carrying R352Q on the other chromosome, and we cannot exclude a contribution to the PS phenotype by the W57G mutation.
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ABCC7 p.Trp57Gly 7544319:78:0
status: NEWX
ABCC7 p.Trp57Gly 7544319:78:132
status: NEW
PMID: 7521710
[PubMed]
Ravnik-Glavac M et al: "Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene."
No.
Sentence
Comment
36
Mutations such as 300delA and W57G, which have nearly identical SSCP patterns can be distinguished by their heteroduplexes (Fig. lc and d).
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ABCC7 p.Trp57Gly 7521710:36:30
status: NEW120 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).
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ABCC7 p.Trp57Gly 7521710:120:242
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
46
[874GNA]+[2126GNA] E292K/R709Q Ex7/Ex13 4 0.33 22. c.1585-1GNA 1717-1GNA*# In10 4 0.33 23. c.3454 GNC D1152H*# Ex18 4 0.33 24. c.3484CNT R1162X*# Ex19 4 0.33 25. c.4242+1GNT 4374+1GNT In23 4 0.33 26. c.1000CNT R334W*# Ex7 3 0.25 27. c.1767-?_2619+?del CFTRdele13,14a Ex13-Ex14a 3 0.25 28. c.3468+2_3468+3insT 3600+2insT In18 3 0.25 29. c.3469-?_3717+?dup CFTRdup19 Ex19 3 0.25 30. c.3964-78_4242+577del CFTRdele22,23# Ex22-Ex23 3 0.25 31. c.53+1GNT 185+1GNT In1 2 0.17 32. c.54-1161_164+1603del2875 CFTRdele2 Ex2 2 0.17 33. c.169TNG W57G Ex3 2 0.17 34. c.254GNA G85E*# Ex3 2 0.17 35. c.274GNT E92X# Ex4 2 0.17 36. c.328GNC D110H# Ex4 2 0.17 37. c.579+3ANG 711+3ANG# In5 2 0.17 38. c.3528delC 3659delC*# Ex19 2 0.17 39. c.4127_4131delTGGAT 4259del5 Ex22 2 0.17 40. c.1-?_1584+?del CFTRdele1,10 Ex1-Ex10 1 0.08 41. c.115CNT Q39X# Ex1 1 0.08 42. c.79GNC G27R Ex2 1 0.08 43.
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ABCC7 p.Trp57Gly 23276700:46:533
status: NEW