ABCMdb

ABCA12 p.Arg986Trp

Predicted by SNAP2:	A: D (91%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (91%), H: D (85%), I: D (91%), K: D (91%), L: D (91%), M: D (91%), N: D (91%), P: D (95%), Q: D (91%), S: D (80%), T: D (91%), V: D (91%), W: D (95%), Y: D (91%),
Predicted by PROVEAN:	A: D, 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, S: D, T: D, V: D, W: D, Y: D,

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[hide] Novel adenosine triphosphate (ATP)-binding cassett... Br J Dermatol. 2012 Jan;166(1):218-21. doi: 10.1111/j.1365-2133.2011.10516.x. Epub 2011 Sep 29. Fukuda S, Hamada T, Ishii N, Sakaguchi S, Sakai K, Akiyama M, Shimizu H, Masuda K, Izu K, Teye K, Tsuruta D, Karashima T, Nakama T, Yasumoto S, Hashimoto T
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.
Br J Dermatol. 2012 Jan;166(1):218-21. doi: 10.1111/j.1365-2133.2011.10516.x. Epub 2011 Sep 29., [PMID:21729033]

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No. Sentence Comment
28 Patients 2 and 3 had compound heterozygosity of missense /splice-site mutations [(p.Arg986Trp)+(c.5940-1G>C), (p.Asn1380Ser)+(c.5128+ 3A>G), respectively]. Login to comment
29 Patient 4 had compound heterozygosity Table 1 Summary of mutation analysis of ABCA12 in the present study Patient Age, sex Mutation Maternal Paternal 1 3 years, girl Compound heterozygous p.Thr1575Pro (c.4723A>C) c.6031delG 2 9 years, girl Compound heterozygous p.Arg986Trp (c.2956C>T) c.5940-1G>C 3 4 months, boy Compound heterozygous p.Asn1380Ser (c.4139A>G) c.5128+3A>G 4 3 months, boy Compound heterozygous p.Thr1575Pro (c.4723A>C) p.Gly1651Ser (c.4951G>A) (a) (b) (c) (d) (e) Fig 1. Login to comment
37 Five mutations (p.Thr1575Pro, c.6031delG, p.Arg986Trp, c.5940-1G>C and c.5128+3A>G) have not been reported previously. Login to comment