ABCMdb

ABCB11 p.Ala277Glu

Predicted by SNAP2:	C: D (59%), D: D (85%), E: D (85%), F: D (85%), G: D (71%), H: D (85%), I: D (80%), K: D (85%), L: D (80%), M: D (75%), N: D (75%), P: D (85%), Q: D (80%), R: D (80%), S: D (63%), T: D (75%), V: D (75%), W: D (85%), Y: D (85%),
Predicted by PROVEAN:	C: D, D: D, E: D, F: D, G: 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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Publications
[hide] Description of two new ABCB11 mutations responsibl... Can J Gastroenterol. 2011 Jun;25(6):311-4. Beausejour Y, Alvarez F, Beaulieu M, Bilodeau M
Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family.
Can J Gastroenterol. 2011 Jun;25(6):311-4., [PMID:21766090]

Abstract [show]
Benign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic cholestasis. Sequencing of the ABCB11 gene revealed two previously unreported mutations that predict the absence of expression of the protein. The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis.

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Sentences [show]
No. Sentence Comment
66 A splice mutation (390 G→T [G130G]) was found on one allele, while a missense sequence variant (830 C→A [A277E]) was found on the other allele. Login to comment
78 The mother was found to have the 390 G→T (G130G) mutation, while the father harboured the 830 C→A (A277E) mutation. Login to comment
65 A splice mutation (390 G࢐T [G130G]) was found on one allele, while a missense sequence variant (830 C࢐A [A277E]) was found on the other allele. Login to comment
77 The mother was found to have the 390 G࢐T (G130G) mutation, while the father harboured the 830 C࢐A (A277E) mutation. Login to comment