ABCC7 p.Gly1127Glu
| CF databases: |
c.3380G>A
,
p.Gly1127Glu
(CFTR1)
?
, This mutation has been found in one among 50 non-[delta]F508 CF chromosomes.
|
| Predicted by SNAP2: | A: D (71%), C: D (80%), D: D (91%), E: D (85%), F: D (91%), H: D (91%), I: D (80%), K: D (95%), L: D (91%), M: D (85%), N: D (75%), P: D (95%), Q: D (91%), R: D (91%), S: D (80%), T: D (85%), V: D (85%), W: D (95%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Disease-associated mutations in the extracytoplasm... J Biol Chem. 2001 May 4;276(18):14848-54. Epub 2001 Feb 6. Hammerle MM, Aleksandrov AA, Riordan JR
Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability.
J Biol Chem. 2001 May 4;276(18):14848-54. Epub 2001 Feb 6., 2001-05-04 [PMID:11278813]
Abstract [show]
Consistent with its function as a chloride channel regulated entirely from the cytoplasmic side of the plasma membrane, the cystic fibrosis transmembrane conductance regulator (CFTR) glycoprotein exposes little of its mass on the exterior surface of cells. The first and fourth extracytoplasmic loops (ELs) contain approximately 15 and 30 residues, respectively; the other four ELs are extremely short. To examine the influence of missense mutants in ELs detected in patients with cystic fibrosis, we have expressed them in mammalian (baby hamster kidney (BHK21)) cells and assessed their biosynthetic processing and chloride channel activity. In contrast to previous findings that 18 of 30 disease-associated missense mutations in cytoplasmic loops caused retention of the nascent polypeptides in the endoplasmic reticulum, all the EL mutants studied matured and were transported to the cell surface. This pronounced asymmetry is consistent with the notion that endoplasmic reticulum quality control of nascent CFTR is exerted primarily on the cytoplasmic side of the membrane. Although this set of EL mutations has little effect on CFTR maturation, most of them seriously compromise its chloride channel activity. Substitutions at six different positions in EL1 and single positions in EL2 and EL4 all destabilized the open state, some of them severely, indicating that the ELs contribute to the stability of the CFTR ion pore.
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No. Sentence Comment
80 tion reported in a patient in EL6, G1127E, was not expressed.
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ABCC7 p.Gly1127Glu 11278813:80:35
status: NEW[hide] Negative genetic neonatal screening for cystic fib... Clin Genet. 2007 Oct;72(4):374-7. Girardet A, Guittard C, Altieri JP, Templin C, Stremler N, Beroud C, des Georges M, Claustres M
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
Clin Genet. 2007 Oct;72(4):374-7., [PMID:17850636]
Abstract [show]
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No. Sentence Comment
28 CFTR mutations identified through the neonatal screening of 84 newborns Mutations Frequency (%) p.Phe508del* 59.52 p.Arg117His* 5.35 p.Gly542X* 2.98 [3849110 kbC.T]* 2.39 p.Arg334Trp* 1.19 p.Arg1162X* 1.19 [2183AA.G]* 1.19 [1717-1G.A]* 1.19 p.Arg1066Cys 1.19 p.Glu1104X 1.19 Total 77.38 Mutations found only once 22.62 Mutations found in a single cystic fibrosis allele: p.Arg75X*, p.Tyr122X*, 71111G.T*, 1078delT*, p.Ile507del*, p.Gly551Asp*, p.Ser1251Asn*, p.Trp1282X*, p.Asn1303Lys*, 62113A.G, p.Leu206Trp, p.Gln220X, p.Gln237Glu, 100115G.A, (TG)12T5, p.Ile506Val, p.Ile506Thr, 1717- 3T.C, p.Leu558Ser, 1802delC, p.Lys710X, p.Leu732X, 2380del8, p.Cys832X, 262211G.A, p.Arg851X, 2634delT, 3007delG, p.Leu997Phe, 3041-15T.G, 3121-1G.A, p.Arg1102X, p.Gly1127Glu, 3750delAG, 3850-1G.A, 400511G.A, and two large rearrangements c.54-5811_c.
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ABCC7 p.Gly1127Glu 17850636:28:751
status: NEW[hide] Amniotic fluid digestive enzyme analysis is useful... Clin Chem. 2009 Dec;55(12):2214-7. Epub 2009 Oct 15. Oca F, Dreux S, Gerard B, Simon-Bouy B, de Becdelievre A, Ferec C, Girodon E, Muller F
Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.
Clin Chem. 2009 Dec;55(12):2214-7. Epub 2009 Oct 15., [PMID:19833837]
Abstract [show]
BACKGROUND: The large number of CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations and the existence of variants of unclear significance complicate the prenatal diagnosis of cystic fibrosis (CF). The aim of this study was to determine whether the pattern of amniotic fluid digestive enzymes (AF-DEs) could be correlated with the severity of CFTR mutations. METHODS: The AF-DE pattern (gamma-glutamyltranspeptidase, aminopeptidase M, and the intestinal isoform of alkaline phosphatase) was retrospectively analyzed in 43 AF samples. All fetuses presented 2 CFTR mutations, which were classified according to the severity of the disease: CF/CF (n = 38); CF/CFTR-related disorders (n = 1); and CF/unknown variant (n = 4). The relationships between clinical CF status, CFTR mutations, and AF-DE pattern were studied. RESULTS: Of 38 severely affected CF fetuses, an "obstructive" AF-DE pattern was observed in 15 of 15 samples collected before 22 weeks, irrespective of the CFTR mutation (diagnostic sensitivity, 100%; diagnostic specificity, 99.8%). In the 23 fetuses evaluated after 22 weeks, the AF-DE pattern was abnormal in 7 cases and noncontributive in 16 (diagnostic sensitivity, 30.4%; diagnostic specificity, 99.8%). Of the 5 questionable cases (F508del/N1224K, F508del/L73F, 3849+10kbC>T/G1127E, F508del/S1235R, F508del/G622D), all were CF symptom free at 2-4 years of follow-up. The AF-DE pattern (<22 weeks) was typical in 3 cases but abnormal in the last 2 cases. CONCLUSIONS: AF-DE analysis is of value for prenatal CF diagnosis in classic forms of CF and could be helpful in nonclassic CF.
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No. Sentence Comment
10 Of the 5 questionable cases (F508del/N1224K, F508del/L73F, 3849ϩ10kbCϾ T/G1127E, F508del/S1235R, F508del/G622D), all were CF symptom free at 2-4 years of follow-up.
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ABCC7 p.Gly1127Glu 19833837:10:85
status: NEW78 In 3 cases (N1224K, L73F, and G1127E), the AF-DE pattern was typical.
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ABCC7 p.Gly1127Glu 19833837:78:30
status: NEW80 F508del was in trans of N1224K and L73F, and the variable CF-causing 3849ϩ10KbCϾT was in trans of G1127E (16).
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ABCC7 p.Gly1127Glu 19833837:80:110
status: NEW89 CFTR mutation Cases, n Outcome/follow-up CF/CF mutation (n ϭ 38) F508del/F508del 21 TOPa (n ϭ 20); birth, severe CF (n ϭ 1) F508del/unidentified severe mutationb 3 TOP (n ϭ 3) F508del/G551D 2 TOP (n ϭ 2) F508del/4005ϩ1GϾA 1 TOP F508del/2711delT 1 Birth, severe CF F508del/297-3CϾT 1 TOP F508del/3120ϩ1GϾA 1 TOP F508del/405ϩ1GϾA 1 TOP F508del/711ϩ1GϾT 1 TOP F508del/Q1042X 1 TOP F508del/dele22-23 1 TOP F508del/2789ϩ5GϾA 1 Birth, severe CF dele19/dele19c 1 Birth, severe CF W1282X/dele2-6b 1 TOP 1078delT/394delTT 1 TOP CF/unknown variant (n ϭ 4) F508del/G622D 1 Birth, no clinical sign of CF F508del/N1224K 1 Birth, no clinical sign of CF F508del/L73F 1 Birth, no clinical sign of CF 3849ϩ10kbCϾT/G1127E 1 Birth, no clinical sign of CF CF/CFTR-related disorder (n ϭ 1) F508del/S1235R 1 Birth, no clinical sign of CF (del22q11 ϩ imperforate anus)d a TOP, termination of pregnancy.
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ABCC7 p.Gly1127Glu 19833837:89:811
status: NEW