ABCC7 p.Leu346Glu
| ClinVar: |
c.1037T>C
,
p.Leu346Pro
?
, not provided
|
| CF databases: |
c.1037T>C
,
p.Leu346Pro
(CFTR1)
?
,
|
| Predicted by SNAP2: | A: D (91%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (85%), K: D (95%), M: D (91%), N: D (95%), P: D (75%), Q: D (91%), R: D (95%), S: D (95%), T: D (95%), V: D (75%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] Novel cystic fibrosis mutation associated with mil... Hum Genet. 1994 May;93(5):529-32. Boteva K, Papageorgiou E, Georgiou C, Angastiniotis M, Middleton LT, Constantinou-Deltas CD
Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.
Hum Genet. 1994 May;93(5):529-32., [PMID:7513296]
Abstract [show]
Cyprus is an island in the eastern Mediterranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful scientific study had ever been done the impression was that CF was extremely rare among the Greek-Cypriots, with an incidence estimated at around 1:30,000. About 2 years ago, we introduced molecular diagnostic methodology in an effort to assist clinicians in safer diagnosis of patients presenting with atypical CF symptomatology, and also for testing the hypothesis that mutations that cause milder phenotypes might be responsible for misdiagnosis or for missing entirely some cases of CF. Initial screening for delta F508 revealed that it is indeed rare in the general population. Further screening of suspected CF patients revealed a novel mutation that converted leucine at position 346 to proline (L346P) in two unrelated families. The second CF mutation was delta F508 and 1677delTA in the two families respectively, both reportedly associated with severe phenotypes. Yet our patients did not present with typical CF pictures possibly because of the dominant nature of this novel mild mutation in exon 7. Symptoms included failure to thrive, chest infections and electrolyte disturbances. These findings raise the possibility that Cyprus might have been spared very severe CF phenotypes but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations.
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No. Sentence Comment
86 These milder phenotypes are more easily explained by the possible mildness of the second mutation, L346E This is in exon 7, which is part of the membrane-spanning region, and next to another previously reported mutation, R347P, which is also known to be associated with less severely impaired pancreatic function (Dean et al. 1990).
X
ABCC7 p.Leu346Glu 7513296:86:99
status: NEW