ABCMdb

ABCA12 p.Arg1514His

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Publications

PMID: 12915478 [PubMed] Lefevre C et al: "Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2."

No. Sentence Comment

64 Origin of families and mutations Family Number of patients Degree of consanguinity Origin Mutation Effect Exon number A 3 1st Morocco 4142G!A G1381E 28 C 1 1st Morocco 4139A!G N1380S 28 D 1 1st Morocco 4139A!G N1380S 28 E 1 1st Morocco 4139A!G N1380S 28 F 3 1st Algeria 4951G!A G1651S 32 G 3 No Algeria 4139A!G N1380S 28 4851G!A G1651S 32 H 1 1st Mali 4541G!A R1514H 30 I 1 1st Algeria 4139A!G N1380S 28 J 1 1st Algeria 4615G!A E1539K 31 neonate mouse skin (AK028781, AK029031). Login to comment
75 All of the mutations were missense mutations and were found in the region of the protein encoded by exons 28-32: 4139A!G (N1380S) and 4142G!A (G1381E) in exon 28, 4541G!A (R1514H) in exon 30, 4615G!A (E1539K) in exon 31 and 4951G!A (G1651S) in exon 32. Login to comment
88 Four of the mutations (N1380S, G1381E, R1514H, E1539K) were situated in the first highly conserved ATP binding domain of the protein (Fig. 4). Login to comment

PMID: 21729033 [PubMed] Fukuda S et al: "Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma."

No. Sentence Comment

63 Only three of 17 mutations (p.Asn1380Ser, p.Ile1494Thr and p.Arg1514His) were located in the first nucleotide-binding folds. Login to comment

PMID: 20672373 [PubMed] Akiyama M et al: "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts."

No. Sentence Comment

77 None of the LI mutations was demonstrated to cause HI phenotype, although one mutation p.Arg1514His was identified to result in both LI and CIE phenotypes (Supp. Table S1). Login to comment
83 Mutations in green letters lead to two distinct phenotypes, p.Arg1950Ter and p.Arg2482Ter both result in CIE and HI phenotypes; p.Arg1514His underlies both CIE and LI phenotypes. Login to comment
95 Only one mutation p.Arg1514His was reported to underlie both CIE and LI phenotypes (Supp. Table S1). Login to comment

PMID: 19262603 [PubMed] Sakai K et al: "ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma."

No. Sentence Comment

45 (À) This study NBCIE8 52 M p.[Arg1514His]+[=] (À) This study NBCIE9 0 M (À) p.[Arg389His]+c.[2111delA] Akiyama et al. (2001a) NBCIE10 37 F p.[Thr345Pro]+[=] (À) Natsuga et al. (2007) NBCIE11 42 M p.[Ile1494Thr]+[?] Login to comment