ABCC7 p.Ala141Asp
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PMID: 10834512
[PubMed]
Kambouris M et al: "Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations."
No.
Sentence
Comment
63
Of more than 850 known CFTR mutations (http:// www.genet.sickkids.on.ca/cftr-cgi-bin/Mutation Table), only 9 were encountered in this study: R75X, A141D, 1249G ® A, DF508, S549R, R553X, 3120 + 1G ® A, I1234V and N1303K.
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ABCC7 p.Ala141Asp 10834512:63:147
status: NEW109 1 (private mutation) 475G ® T G115X ± protein truncation 1 2 1a [I1234V] 1 Total: 2 2.5% 536C ® T A141D 1 2 (private mutation) 548A ® T H139L 3 6 1a [S549R] 1 Total: 4 6% Exon 5 711 + 1G ® A Splice site 1 2 1a [?]
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ABCC7 p.Ala141Asp 10834512:109:113
status: NEW
No.
Sentence
Comment
16
Still, 3 mutations may be specific to the Algerian [7-9] population (A141D, L227R, and N1303H) and 2 to the Tunisian population (T665S and 2766del8).
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ABCC7 p.Ala141Asp 17572159:16:69
status: NEW
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.
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ABCC7 p.Ala141Asp 10923036:109:234
status: NEW
PMID: 9222768
[PubMed]
Gouya L et al: "Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient."
No.
Sentence
Comment
0
86 GOUYA ET AL. (c) 1997 WILEY-LISS, INC. HUMU 643 MUTATION IN BRIEF Novel Mutation (A141D) in Exon 4 of the CFTR Gene Identified In An Algerian Patient Laurent Gouya,1 Olivier Pascaud,1 Anne Munck,2 Jacques Elion,1 and Erick Denamur1* 1 Laboratoire de Biochimie Génétique, Hôpital Robert Debré, 75935 Parix cedex 19, France; Fax: 33-1-40-3-2020 2 Service de Gastro-Entérologie, Höpital Robert Debré, 75935 Paris Cedex 19, France Communicated by Farid F. Chehab Received 30 August 1995; Accepted 28 December 1995.
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ABCC7 p.Ala141Asp 9222768:0:85
status: NEW12 Sequence analysis of the abnormal PCR-product revealed a C→A transversion at nucleotide 554 generating a drastic (neutral to charged) Ala→Asp amino acid change at position 141 in the CFTR protein (A141D).
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ABCC7 p.Ala141Asp 9222768:12:211
status: NEW13 Familial segregation analysis excluded the possibility that the N1303K and the A141D mutations, in this patient, were both present on the same allele.
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ABCC7 p.Ala141Asp 9222768:13:79
status: NEW14 The A141D mutation occurs in the intracytoplasmic loop at the C-terminal end of the first membrane-spanning domain, right after the second putative transmembrane helix M2.
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ABCC7 p.Ala141Asp 9222768:14:4
status: NEW