ABCB4 p.Ala511Thr

Predicted by SNAP2: C: N (87%), D: D (75%), E: D (71%), F: D (66%), G: D (53%), H: D (63%), I: N (66%), K: D (63%), L: D (53%), M: N (53%), N: D (63%), P: D (75%), Q: D (59%), R: D (66%), S: N (61%), T: N (53%), V: N (66%), W: D (71%), Y: D (66%),
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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[hide] Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, Bordo D, Coviello DA
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Eur J Hum Genet. 2007 Dec;15(12):1230-8. Epub 2007 Aug 29., [PMID:17726488] [PubMed]

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[hide] Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, Motta V, Consonni D, Maggiore G
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):73-83., [PMID:21119540] [PubMed]

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[hide] Degiorgio D, Crosignani A, Colombo C, Bordo D, Zuin M, Vassallo E, Syren ML, Coviello DA, Battezzati PM
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
J Gastroenterol. 2015 Sep 1., [PMID:26324191] [PubMed]

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