ABCB11 p.Leu233Ser
| Predicted by SNAP2: | A: N (72%), C: N (72%), D: D (71%), E: D (66%), F: N (66%), G: D (63%), H: D (63%), I: N (97%), K: D (66%), M: N (93%), N: N (66%), P: D (71%), Q: D (59%), R: D (66%), S: N (53%), T: N (61%), V: N (97%), W: D (63%), Y: N (57%), |
| Predicted by PROVEAN: | A: N, C: N, 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: N, V: N, W: D, Y: N, |
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[hide] Clinical variability of mutations in the ABCB11 ge... Rev Esp Enferm Dig. 2013 Jan;105(1):52-4. Jaquotot-Herranz M, Casanova-Martinez L, Olveira-Martin A, Castillo-Grau P, Alvarez-Garcia L, Jara-Vega P, Gea-Rodriguez F
Clinical variability of mutations in the ABCB11 gene: a case report.
Rev Esp Enferm Dig. 2013 Jan;105(1):52-4., [PMID:23548013]
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No. Sentence Comment
40 The first mutation was found in exon 8 (change T>C in nucleotide 698), meaning the substitution of leucine 233 for serine (L233S) took place.
X
ABCB11 p.Leu233Ser 23548013:40:99
status: NEWX
ABCB11 p.Leu233Ser 23548013:40:123
status: NEW