ABCA12 p.Gly1136Asn
| Predicted by SNAP2: | A: D (80%), C: D (85%), D: D (85%), E: D (91%), F: D (91%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (91%), P: D (91%), Q: D (91%), R: D (95%), S: D (59%), T: D (80%), V: D (91%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: 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] Novel ABCA12 missense mutation p.Phe2144Ser underl... J Dermatol. 2013 Jul;40(7):581-2. doi: 10.1111/1346-8138.12169. Epub 2013 May 19. Shimizu Y, Sugiura K, Aoyama Y, Ogawa Y, Hitomi K, Iwatsuki K, Akiyama M
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma.
J Dermatol. 2013 Jul;40(7):581-2. doi: 10.1111/1346-8138.12169. Epub 2013 May 19., [PMID:23682801]
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No. Sentence Comment
19 Two mutations of p.Gly1136Asn and p.Phe2144Ser are in the extracytoplasmic loops between the transmembrane domains, and the other mutation, p.Trp1235Ser, is in the intracytoplasmic loop (a) (b) (c) (d) Figure 1.
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ABCA12 p.Gly1136Asn 23682801:19:19
status: NEW