ABCMdb

ABCC7 p.Phe1016Ser

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Publications

PMID: 15365999 [PubMed] Alper OM et al: "Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients."

No. Sentence Comment

80 3179 T>C (c.3047T>C, p.Phe1016Ser): The missense mutation p. Phe1016Ser is caused by the transition thymine to cytosine at nucleotide position 3179 in exon 17a of the CFTR gene. Login to comment
63 A total of eight novel mutations: one missense mutation 3179T>C, (c.3047T>C, p.Phe1016Ser), six frame-shift mutations: 124_146del23bp (c.-9_14del23), 360_365insT (c.233dupT, p.Phe77fs), 379_381insT (c.248dupT, p.Phe83fs), 1285_1288dupTA (c.1153_1154dupTA, p.Tyr385fs), 2289_2295del7insGT (c.2157_2163del7insGT, p.Leu719fs), and 3960_3961delA (c.3828delA, p.Ser1276fs), and one splice-site mutation, were discovered (Table 1A). Login to comment
72 Novel Mutations Nucleotide change-position Traditional nomenclature Approved nomenclature Protein Mutation/ Effect Exon/ Intron Number of chromosomes 124_146del23bp c.- 9_14del23 No translation initiation 5`UTR 1 296+2T>A c.164+2T>A splice mutation/ truncation int 2 2 (sib) 360_365 insT c.233dupT p.Phe77fs frameshift/ truncation 3 1 379_381 insT c.248dupT p.Phe83fs frameshift/ truncation 3 1 1285_1288dupTA c.1153_1154dupTA p.Tyr385fs frameshift/ truncation 8 6 (1 homo) 2289_2295 del 7bp insGT c.2157_2163del7insGT p.Leu719fs frameshift/ truncation 13 1 3179 T>C c.3047T>C p.Phe1016Ser missense mutation 17a 1 3960_3961 del A c.3828delA p.Ser1276fs frameshift/ truncation 20 1 Mutations identified in African Americans are in bold. Table 1B. Login to comment
82 p.Phe1016Ser was found in a three year-old Hispanic female patient (# 1, Table 2A) who carries another novel mutation, the 1285_1288dupTA on the other chromosome. Login to comment
135 Clinical Presentations of Five Cystic Fibrosis Cases with Novel 1288insTA Mutation # 1 # 2 # 3 # 4 # 5 Agea /age at diagnosis 3y / 4m 19m / 4m 5y / 8m 6y / 6m 4y / 2m Mutation 1 p.Phe1016Ser 406-1G>A p.Ser492Phe 3876delA 1285_1288dupTA Mutation 2 1285_1288dupTA 1285_1288dupTA 1285_1288dupTA 1285_1288dupTA 1285_1288dupTA Sweat Cl-(mEq/L) b 92 84 97 87 91 FVC (%)a n/a n/a 100 72 n/a FEV1 (%)a n/a n/a 88 62 n/a Infection / Complication Probable haemophilus species, M. Catarrhalis S. aureus, P.aeruginosa none S. aureus, S. marcencens, haemophilus species, respiratory syncytial virus infection (RSV) P. aeruginosa, A. terreus, ABPA Height (cm) a percentile) 93cm (10%) 76cm (5%) 115cm (75%) 116.8cm (10-25%) 102cm (50%) Weight (kg) a percentile) 13.8kg (10-25%) 9kg (<5%) 23kg (95%) 19.9kg (10-25%) 16kg (50%) IRT c (ug/dL) n/a n/a n/a 198,2 n/a Meconium ileus no no no no no Pancreatic function PI PI PI PI PI Enzyme Creon 5 (2/meal,1/snack) Ultrase MT 10 (2/meal, 1/snack) Ultrase MT 12 (3/meal, 1/snack) Creon 10 (5/meal,4/snack) Ultrase (2/meal, 1/snack); Viokase (1/2 tsp/ nocturnal G-tube feeding) Ethnicity Hispanic Hispanic Hispanic Hispanic Hispanic National Origin Mexico Mexico and Native American Mexico Mother - Mexico Father - SanSalvador Mexico Sex F F M M M Family History no known family history no known family history no known family history no known family history Parents are 1st cousins Clinical presentation prior to diagnosis severe FTT, pneumonia, GERD FTT, recurrent respiratory tract infections frequent cough, respiratory tract infections recurrent pneumonia FTT Novel mutations indicated in bold. a at blood draw, b age at sweat Cl- is the same as age at diagnosis, c IRT (immunoreactive trypsin) measured from archived Guthrie cards, if available. ABPA: allergic bronchopulmonary aspergillosis, F: female, FEV: Forced expiratory volume, FVC: Forced vital capacity, FTT: Failure to thrive, GERD: gastroesophageal reflux disease, G-tube: gastrointestinal tube, M: male; m: months, MI: meconium ileus, n/a: not available, PI: Pancreatic insufficient, PS: pancreatic sufficient, y: years. Login to comment
140 Except for the p.Phe1016Ser missense mutation, all of the novel mutations are frame shift or splice-site mutations that produce truncated CFTR proteins, expected to be deleterious. Login to comment

PMID: 15300780 [PubMed] Wong LJ et al: "Detection of CFTR mutations using temporal temperature gradient gel electrophoresis."

No. Sentence Comment

133 Identification of rare and novel mutations and polymorphisms Base substitution Mutation Exon or intron Homozygote or heterozygote Polymorphism or mutation # Alleles identified 1 c.124_146del23bp Frameshift 1 Heterozygote Mutation 1 2 c.296+2T>A Splice Int 2 Heterozygote Mutation 1 3 c.296+28A/G Int 2 Homozygote Polymorphism 2 4 c.355CT p.R75X 3 Heterozygote Mutation 2 5 c.360_365insT Frameshift 3 Heterozygote Mutation 1 6 c.379_381insT Frameshift 3 Heterozygote Mutation 1 7 c.406-1G>A Splice Int 4 Heterozygote Mutation 2 8 c.424C.T p.Q98X 4 Heterozygote Mutation 1 9 c.425A.G p.Q98R 4 Heterozygote Mutation 3 10 c.586A.G p.M152V 4 Homozygote Mutation 2 11 c.663delT Frameshift 5 Heterozygote Mutation 3 12 c.667C>A p.Q179K 5 Heterozygote Mutation, 1 13 c.745C.T p.P205S 6a Heterozygote Mutation 5 14 c.875140A/G 6a Heterozygote Polymorphism 11 15 c.935delA Frameshift 6b Heterozygote Mutation 2 16 c.124811G.A Splice Int 7 Heterozygote Mutation 2 17 c.1285ins TA Frameshift 8 Heterozygote Mutation 4 Homozygote Mutation 2 18 c.1342+196C/T Int 8 Heterozygote Polymorphism 4 Homozygote 2 19 c.1461insAGAT Frameshift 9 Heterozygote Mutation 1 20 c.1525-61A/G 10 Heterozygote Polymorphism 22 21 c.1529C.A/G p.S466X 10 Heterozygote Mutation 1 22 c.1607C.T p.S492F 10 Heterozygote Mutation 3 23 c.1814C.T p.A561E 12 Heterozygote Mutation 1 24 c.189813A.G Splice Int 12 Heterozygote Mutation 1 25 c.18981152T/A Int 12 Heterozygote Polymorphism 5 26 c.1924del 7bp Frameshift 13 Heterozygote Mutation 1 27 c.1949del84 Frameshift 13 Heterozygote Mutation 1 28 c.2055del9toA Frameshift 13 Homozygote Mutation 2 29 c.2105_2117 Frameshift 13 Heterozygote Mutation 4 del13insAGAAA 30 c.2108delA Frameshift 13 Heterozygote Mutation 1 31 c.2184insA Frameshift 13 Heterozygote Mutation 2 32 c.2184delA Frameshift 13 Heterozygote Mutation 1 33 c.2289_2295 Frameshift 13 Heterozygote Mutation 1 del7insGT 34 c.2694T.G p.T854T 14a Heterozygote Polymorphism 10 35 c.2752+12G/C Int 14a Heterozygote Polymorphism 2 36 c.2800C.T p.Q890X 15 Homozygote Mutation 2 37 c.3171delC Frameshift 17a Heterozygote Mutation 1 38 c.3179T>C p.F1016S 17a Heterozygote Mutation 1 39 c.3199del 6bp Frameshift 17a Heterozygote Mutation 1 40 c.3212T.C p.I1027T 17a Heterozygote Mutation 1 41 c.3272-26A.G Splice Int17a Heterozygote Mutation 4 42 c.3271delGG Frameshift 17a Heterozygote Mutation 1 43 c.3313G.C p.G1061R 17b Heterozygote Mutation 1 44 c.3328C.T p.R1066C 17b Heterozygote Mutation 2 45 c.3362T.C p.L1077P 17b Heterozygote Mutation 1 46 c.3431A.C p.Q1100P 17b Heterozygote Mutation 1 47 c.3500-2A>T Splice Int 17b Heterozygote Mutation 1 48 c.3743G.A p.W1204X 19 Heterozygote Mutation 1 Homozygote Mutation 2 49 c.3601-65C/A Int 19 Heterozygote Polymorphism 14 50 c.3863G.A p.G1244E 20 Heterozygote Mutation 3 Table 3. Login to comment

PMID: 18556774 [PubMed] Schrijver I et al: "Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis."

No. Sentence Comment

112 Mutations under MLPA Ligation Sites Exon Probe length (nt) Ligation site sequence Mutations in area of ligation site sequence* 1,5Ј UTR 154 5Ј-GAGCAAAT-TTGGGGCC-3Ј N/A 1,5Ј UTR 238 5Ј-AAAGGGTT-GAGCGGCA-3Ј 2 198 5Ј-TTGGTATA-TGTCTGAC-3Ј (5) 3 136 5Ј-CTGCTAGT-GTTGCCAA-3Ј (3) 3 220 5Ј-TTCAAAGA-AAAATCCT-3Ј 4 247 5Ј-AGAATCAT-AGCTTCCT-3Ј 444delA, African; 451del8, Chinese; (6) 5 346 5Ј-AAATAAGT-ATTGGACA-3Ј Q179K, Hispanic (7) 6a 274 5Ј-GAGTTGTT-ACAGGCGT-3Ј L218X, Pakistani (4) 6b 301 5Ј-ATTTTCAA-TCATTTCT-3Ј 935delA, Hispanic; 936delTA, Hispanic (3) 7 337 5Ј-ACTTCAAT-AGCTCAGC-3Ј S307N, Turkish (9) 8, IVS 8 364 5Ј-TTTCTAGA-TTAAGAAG-3Ј N/A 9, IVS 8 391 5Ј-TCCATCAC-ACTGGTAG-3Ј N/A 10 463 5Ј-TCCACTGT-GCTTAATT-3Ј H484Y, Hispanic; S485C, Chinese-Caucasian (5) 11 418 5Ј-CAGAGAAA-GACAATAT-3Ј K536X, Iranian; 1742delAC, Japanese (5) 12, IVS 12 292 5Ј-TGCATTTT-ACCTCTTG-3Ј N/A 13 142 5Ј-CAGATTCT-GAGCAGGG-3Ј (1) 14a 160 5Ј-GTATGTGT-TCCATGTA-3Ј (3) 14b 178 5Ј-CTGCTTCT-TTGGTTGT-3Ј 2766del8, Tunisian (1) 15 204 5Ј-GCTTGCTA-TGGGATTC-3Ј (1) 16, IVS 16 229 5Ј-GATGTAAT-AGCTGTCT-3Ј N/A 17a 256 5Ј-TGCAACAA-AGATGTAG-3Ј 3171delC, Hispanic; 3173delAC, Turkish; F1016S, Hispanic (5) 17b 283 5Ј-CAGTATGT-AAATTCAG-3Ј H1085R, Japanese (4) 18 310 5Ј-CCATGAAT-ATCATGAG-3Ј M1137R, Hispanic (6) 19 353 5Ј-TCTGTGTA-TTTTGCTG-3Ј 3791delC, African-American (2) 20 382 5Ј-CTTGGGAT-TCAATAAC-3Ј 3960delA, Hispanic (2) 21 409 5Ј-TGCAACTT-TCCATATT-3Ј W1316X, African-American (2) 22 436 5Ј-GAACAGTT-TCCTGGGA-3Ј No mutations 23 148 5Ј-CCAGCATT-GCTTCTAT-3Ј M1407T, Turkish; E1409K, Hispanic (2) 24 190 5Ј-ATCCAGAA-ACTGCTGA-3Ј No mutations 24 172 5Ј-CTCCTCTT-TCAGAGCA-3Ј UTR, untranslated region; IVS, intervening sequence; N/A, not applicable, probes not in coding region; No mutations, no reported mutations are present in the area of the ligation site sequence, regardless of ethnicity. Login to comment