ABCMdb

ABCC7 p.Thr465Asn

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Publications

PMID: 16980811 [PubMed] Kammesheidt A et al: "Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening."

No. Sentence Comment

77 We identified eight novel CFTR mutations in seven persons in the study population (Table 2): two contained stop codons (E257X, Y914X), two were small deletions (3940delG, 2289del10ins5), two were amino acid substitutions (M150K, T465N), one was a gross deletion of exons 17A and 17B, and one was a base pair substitution (3849 ϩ 72GϾA). Login to comment
79 All of the patients with novel mutations had elevated immunoreactive trypsinogen (IRT) and/or sweat tests and are clinically diagnosed with CF; however, the patient with the amino acid substitution T465N (and a known deleterious mutation at 711 ϩ 1GϾT) died in childhood and no additional clinical information is available. Login to comment
89 The two other novel variants were amino acid substitutions(M150K,T465N).ThepatientwithM150Kalsohad the gross deletion of exons 17A and 17B. Login to comment
98 In states with single specimenmodels,originalspecimensaretestedforthepresenceof themostcommonmutation,deltaF508,and/orotherdeleterious Table 1 Genotype data from panel testing and comprehensive Ambry TestTM : CF analysis Case Ethnicity ABI-31 Mutation 1 ABI-31 Mutation 2 Genzyme-87 Mutation 1 Genzyme-87 Mutation 2 Ambry Mutation 1 Ambry Mutation 2 Ambry Mutation 3 1 Hispanic delF508a 4382delAa 2 Hispanic delF508 N/I delF508 N/I delF508a 1248ϩ1GϾAa 3 African-American N/I N/I N/I N/I M150K CFTRdele17A,17Bb 4 Hispanic G542X N/I G542X N/I G542Xa 1288insTAa 5 African-American N/I N/I 3120ϩ1GϾA N/I 3120ϩ1GϾAa Q98Xa 3849؉72G>A 6 Hispanic delF508 N/I delF508 N/I delF508a 2289del10ins5a 7c Hispanic N/I N/I N/I N/I H199Ya 406-1GϾAa 8 Hispanic delF508 N/I delF508 N/I delF508a CFTRdele2,3(21kbb 9 Hispanic delF508 N/I delF508 N/I delF508a 2105-2117del13insAGAAAa 10 Hispanic G542X N/I G542X N/I G542X M952I Y914X 11 Hispanic N/I N/I N/I N/I 663delT L558S 12 Hispanic N/I N/I delF311 N/I delF311a 406-1GϾAa 13 Hispanic N/I N/I 2055del9insAa 2055del9insAa 14 Hispanic delF508 N/I delF508 N/I delF508 2055del9insA 15 Hispanic delF508 N/I delF508 N/I delF508 E257X 16 Hispanic N/I N/I N/I N/I V232D V232D 17 Hispanic delF508 N/I delF508 N/I delF508 H199Y 18 Hispanic delF508 N/I delF508 4160insGGGG 19 Caucasian delF508 N/I delF508 297-1GϾA 20 Hispanic 2183delAAϾG N/I 2183delAAϾG N/I 2183de1AAϾG 3500-2AϾG 21 Hispanic delF508 N/I delF508 S492F 22 Hispanic delF508 N/I delF508 N/I delF508 935delA 23 Caucasian R1162X N/I R1162X N/I R1162X 3940delG 24 Hispanic 711ϩ1GϾT N/I 711ϩ1GϾT T465N 25 Hispanic delF508 N/I delF508 N/I delF508 406-1GϾA 26 Hispanic delF508 N/I delF508 2055del9insA 27 Hispanic delF508 N/I delF508 N/I delF508 V232D 28 Hispanic delF508 N/I delF508 N/I delF508 S1235R 29 Hispanic G542X N/I G542X N/I G542X 297-1GϾA 30 Hispanic delF508 N/I delF508 N/I delF508 Q1100P 31 Hispanic delF508 N/I delF508 W216X 32 Hispanic N/I N/I N/I N/I 406-1GϾA H199Y 33 Hispanic N/I N/I N/I N/I 3272-26AϾG R75X 34 Hispanic N/I N/I Q890X N/I Q890X 2055del9insA 35 Hispanic delF508 N/I delF508 N/I delF508 W216X 36 Hispanic delF508 N/I delF508 N/I delF508 H199Y 37 Hispanic delF508 N/I delF508 N/I delF508 1288insTA I1027T 38 Hispanic G542X N/I G542X N/I G542X 663delT 39 Hispanic delF508 N/I delF508 N/I delF508 1288insTA 40 Hispanic delF508 N/I delF508 1288insTA mutations using mutation panels. Login to comment
111 del) AA F 572.9 No 2 mo 99 9 y 134 27 5 Q98X 3120ϩ1GϾA 3849؉72G>A (c.3717؉72G>A) AA F 253.1 No 6 mo 143 7 y 116 20 6 delF508 2289del10ins5a (c.2158_2167delACAA ATGAATinsGTAAG; p.L719fs) H M 70.8 No 1 y 104 14 y N/A N/A 8 delF508 CFTRdele2,3 (21 kb)b H F 214.2 No 3 y 103 5 y 108 18.6 10 G542X M952I Y914X (c.2742T>A;p.Y914X) H M 250.5 No 3 mo 95 6 y 112 22.2 15 delF508 E257X (c.769G>T; p.E257X) H M 301.3 No 0 mo 89 5 y N/A N/A 23 R1162X 3940delG (c.3808delG; p.D1270fs) C F N/A No 4 mo 86 8 mo 65 5.2 24 711ϩ1GϾT T465N (c.1394C>A; p.T465N) H F N/A N/A N/A N/A Deceased N/A N/A AA, African-American; H, Hispanic; C, Caucasian; MI, meconium ileus; IRT, immunoreactive trypsinogen; N/A, not available. Login to comment

PMID: 25910067 [PubMed] Lucarelli M et al: "A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis."

No. Sentence Comment

156 The T465N (p.Thr465Asn) mutation was found in a CF-PI male patient with a W1282X/T465N (p. Login to comment
157 [Trp1282*];[Thr465Asn]) genotype. Login to comment
181 Old nomenclature (legacy name) New nomenclature (HGVS name) Nucleotidic Aminoacidic Nucleotidic Aminoacidic Position notation notation Position notation notation Exon 10 1567G>T E479X exon 11 c.1435G>T p.Glu479* Exon 9 1456A>T K442X exon 10 c.1324A>T p.Lys442* Exon 11 1717G>A D529N exon 12 c.1585G>A p.Asp529Asn Exon 10 1526C>A T465N exon 11 c.1394C>A p.Thr465Asn Exon 2 188G>A W19X(TAG) exon 2 c.56G>A p.Trp19*(TAG) Exon 22 4256A>C H1375P exon 25 c.4124A>C p.His1375Pro Exon 13 2467C>T Q779X exon14 c.2335C>T p.Gln779* Exon 20 3871G>C G1247R(G>C) exon 23 c.3739G>C p.Gly1247Arg Exon 20 3862G>A G1244R exon 23 c.3730G>A p.Gly1244Arg Intron 7 1249-8A>G - intron 8 c.1117-8A>G - Exon 3 299A>G E56G exon 3 c.167A>G p.Glu56Gly Table 2. Login to comment
189 [Phe508del];[Asp529Asn] 4 W1282X/T465N c. Login to comment
191 [Trp1282*];[Thr465Asn] 5 G542X/W19X(TAG) c. Login to comment
377 [1210-14TG[11];1210-12T[5];1684G>A;3017C>A] CF-PS,CFTR-RD T5 varying clinical consequence; V562I nd; A1006E nd K442X c.1324A>T CF-PI nd p.Lys442* T465N c.1394C>A CF-PI nd p.Thr465Asn [S466X(TGA);R1070Q] c. Login to comment