ABCA12 p.Met1100Arg
| Predicted by SNAP2: | A: D (71%), C: D (66%), D: D (91%), E: D (91%), F: D (80%), G: D (85%), H: D (85%), I: D (59%), K: D (91%), L: N (66%), N: D (85%), P: D (91%), Q: D (80%), R: D (91%), S: D (85%), T: D (85%), V: D (63%), W: D (85%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Novel ABCA-12 Mutations Leading to Recessive Conge... Pediatr Dermatol. 2012 Feb 3. doi: 10.1111/j.1525-1470.2011.01695.x. Peterson H, Lofgren S, Bremmer S, Krol A
Novel ABCA-12 Mutations Leading to Recessive Congenital Ichthyosis.
Pediatr Dermatol. 2012 Feb 3. doi: 10.1111/j.1525-1470.2011.01695.x., [PMID:22299640]
Abstract [show]
Mutations in the keratinocyte lipid transporter adenosine triphosphate-binding cassette A12 (ABCA12) are known to cause harlequin ichthyosis. More recently, mutations in this gene have been demonstrated to cause other phenotypes within the spectrum of recessive congenital ichthyosis. We report the case of an infant with novel heterozygous mutations in ABCA12 who exhibited features and a clinical course more consistent with congenital ichthyosiform erythroderma than harlequin ichthyosis.
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No. Sentence Comment
14 Gene testing recently revealed her to have compound heterozygous novel adenosine triphosphate-binding cassette A12 (ABCA12) mutations: a c.3299T>G/p.M1100R and a c.7164dupT/p.Met2389 TyrfsX27.
X
ABCA12 p.Met1100Arg 22299640:14:149
status: NEW