ABCMdb

ABCC7 p.Glu292Lys

None has been submitted yet.

Publications

PMID: 21177244 [PubMed] Iram SH et al: "Expression and function of human MRP1 (ABCC1) is dependent on amino acids in cytoplasmic loop 5 and its interface with nucleotide binding domain 2."

No. Sentence Comment

251 Similarly, a deletion mutation (⌬E278) and two missense mutations (R258G and E292K) in CFTR/ABCC7 that involve amino acids analogous to MRP1-Glu521 , -Arg501 , and -Glu535 , respectively, are associated with cystic fibrosis (48). Login to comment

PMID: 10923036 [PubMed] Claustres M et al: "Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France."

No. Sentence Comment

109 h M1K, K14X, W19X, 211delG, G27E, R31C, 237insA, 241delAT, Q39X, 244delTA, 296+2T>C, 297-3C>T, W57X+F87L, 306delTAGA, P67L, A72D, 347delC, R75Q, 359insT, 394delT, 405+4A>G, Q98R, 457TAT>G, R117H+5T, R117H+I1027T, R117L, R117P, H139R, A141D, M152V, N186K, D192N, D192del, E193X, 711+1G>A, 711+3A>G, 712-1G>T, L206F, W216X, C225R, Q237E, G241R, 852del22, 876-14del12, 905delG, 993del5, E292K, Y304X, F311del, 1161delC, R347L, R352Q, W361R, 1215delG, S364P, S434X, D443Y, S466X, C491R, T501A, I506T, F508C, I507del+F508C, F508del+L467F, 1774delCT, R553G, 1802delC, 1806delA, A559E, Y563N, 1833delT, Y569C, Y569H, Y569X, G576X, G576A, T582I, 1898+3A>G+186-13C>G, 1918delGC, R600G, L610S, G628R, 2043delG, 2118del4, E664X, 2174insA, Q689X, K698R, K716X, L732X, 2347delG, 2372del8, R764X, 2423delG, S776X, 2634insT, 2640delT, C866Y, 2752-1G>T, W882X, Y913C, V920M, 2896insAG, H939D, H939R, D979V, D985H, D993Y, 3120G>A, I1005R, 3195del6, 3293delA, 3320ins5, W1063X, A1067T, 3359delCT, T1086I, W1089X, Y1092X+S1235R, W1098X, E1104X, R1128X, 3532AC>GTA, 3548TCAT>G, M1140del, 3600G>A, R1162L, 3667ins4, 3732delA+K1200E, S1206X, 3791delC, S1235R+5T, Q1238R, Q1238X, 3849+4A>G, T1246I, 3869insG, S1255P, R1283K, F1286S, 4005+1G>T, 4006-8T>A, 4015delA, N1303H, N1303I, 4172delGC, 4218insT, 4326delTC, Q1382X, 4375-1C>T, 4382delA, D1445N, CF40kbdel4-10, Cfdel17b. Login to comment

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. Login to comment
55 Her first CF child bears a R709Q-E292K/ N1303K in trans, while sequencing of exon 7, 13 and 21 during prenatal diagnosis of her second child, who is unaffected, revealed the R709Q-E292K/V754M genotype. Login to comment
83 In addition, previously unknown complex allele [25] comprising R709Q-E292K in cis in four unrelated families was discovered, with the R709Q being reported in AT [26]. Login to comment