ABCA12 p.Thr1575Pro
| Predicted by SNAP2: | A: D (59%), C: D (63%), D: D (66%), E: N (53%), F: D (71%), G: D (63%), H: D (66%), I: N (72%), K: D (75%), L: D (71%), M: D (63%), N: D (59%), P: D (80%), Q: D (63%), R: D (66%), S: N (53%), V: D (63%), W: D (71%), Y: D (71%), |
| 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, R: D, S: 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
27 Patient 1 had compound heterozygosity of missense /small deletion mutations [(p.Thr1575Pro)+(c.6031delG)].
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ABCA12 p.Thr1575Pro 21729033:27:80
status: NEW29 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.
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ABCA12 p.Thr1575Pro 21729033:29:190
status: NEWX
ABCA12 p.Thr1575Pro 21729033:29:413
status: NEW35 Ó 2011 The Authors BJD Ó 2011 British Association of Dermatologists 2012 166, pp212-235 Correspondence of missense mutations [(p.Thr1575Pro)+(p.Gly1651Ser)].
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ABCA12 p.Thr1575Pro 21729033:35:141
status: NEW37 Five mutations (p.Thr1575Pro, c.6031delG, p.Arg986Trp, c.5940-1G>C and c.5128+3A>G) have not been reported previously.
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ABCA12 p.Thr1575Pro 21729033:37:18
status: NEW65 The mutation p.Thr1575Pro was identified in two unrelated patients with different clinical severity.
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ABCA12 p.Thr1575Pro 21729033:65:15
status: NEW