ABCC7 p.Tyr1092Ser
| ClinVar: |
c.3276C>A
,
p.Tyr1092*
D
, Pathogenic
c.3276C>G , p.Tyr1092* D , Pathogenic |
| CF databases: |
c.3276C>A or c.3276C>G
,
p.Tyr1092*
D
, CF-causing
c.3274T>C , p.Tyr1092His (CFTR1) ? , The Y1092H mutation was seen on 1 Caucasian chromosome in US. ASO analysis revealed that this alteration was not present on 100 non-CF Caucasian chromosomes. This mutation was found in a 9 year old patient with a diagnosis of asthma. Sweat testing was borderline with values of 58 and 52. Tests were negative for staph and pseudomonas. The mutation was found after screening of 16 common mutations ([delta]F508, R117H, W1282X, 621+1G->T, R334W, R347P, A445E, [delta]I507, 1717-1G->A, G542X, S549N, G551D, R553X, R560T, N1303K, 3849+10kbC->T) by reverse dot blot and 4 exons by DGGE. It is yet to be determined if a second CF mutation will be found. c.3275A>G , p.Tyr1092Cys (CFTR1) ? , The mutation was published in Hum Genet. 2004 Mar;114(4):403. |
| Predicted by SNAP2: | A: D (63%), C: D (53%), D: D (91%), E: D (85%), F: N (72%), G: D (85%), H: D (85%), I: D (66%), K: D (91%), L: D (53%), M: D (71%), N: D (80%), P: D (91%), Q: D (80%), R: D (85%), S: D (75%), T: D (71%), V: D (63%), W: D (75%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: N, W: N, |
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[hide] CFTR mutations in patients from Colombia: implicat... Hum Mutat. 2003 Sep;22(3):259. Keyeux G, Rodas C, Bienvenu T, Garavito P, Vidaud D, Sanchez D, Kaplan JC, Aristizabal G
CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.
Hum Mutat. 2003 Sep;22(3):259., [PMID:12938099]
Abstract [show]
Cystic Fibrosis is a worldwide distributed hereditary disease. The incidence of the main (p.F508del) and other frequent mutations has been determined in a great number of countries and ethnic groups, but its incidence in most Latin American countries has remained unknown until recently. It is now beginning to be recognized as a frequent cause of infant mortality, and some countries report the incidence of their mutations. Colombia started several years ago a concerted program of molecular study of patients which were clinically diagnosed as probable cystic fibrosis. We screened the whole CFTR (ABCC7) coding sequence in 92 patients from 6 different geographic regions, using conventional PAGE analyses and DGGE followed by sequencing. Additionally, we established the frequency of the p.F508del mutation in 130 unrelated healthy controls. The results of this pilot study in Colombian patients from various ethnic admixture show six main mutations: p.F508del (41.8%), c.1811+1.6kbA>G (6.5%), p.G542X (3.8%), p.S549R (2.2%), p.W1282X (1.1%) and p.R1162X (1.1%). Thirteen other rare mutations, including three novel, were detected, accounting for a total of 63.6% known mutations. There is a great variability between the geographic regions, both in the frequency of the p.F508del mutation and non-p.F508del CF chromosomes. Our results point to a varied origin of the disease genes. These results also show that careful scrutiny of the mutations is needed in each part of Latin America in order to establish priority-screening protocols adapted to each country and region.
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No. Sentence Comment
54 The frameshift mutation (c.1323_1324insA) located in exon 8 of the CFTR gene is detected in Bolivar in a compound heterozygous patient ([p.Y1092S]+[c.1323_1324insA]).
X
ABCC7 p.Tyr1092Ser 12938099:54:139
status: NEW