ABCMdb

ABCC6 p.Glu422Lys

None has been submitted yet.

Publications

PMID: 19284998 [PubMed] Sato N et al: "Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks."

No. Sentence Comment

8 Six variants were successfully identified as causal mutations for AS (p.R419Q, p.E422K, c.2542delG, Del_Exon23, c.3774-3775insC and p.E1427K), and 4 of these were novel. Login to comment
114 of patients PXE Non-PXE Unknown GTGG/GTGG 8 p.R419Q/p.R419Q 5 3 1 1 p.R419Q/À 1 0 0 1 À/À 2 0 0 2 GTGG/GTGA 8 p.R419Q/À 2 2 0 0 À/À 6 4 0 2 ATGA/ATGA 8 c.2542delG/c.2542delG 7 4 2 1 c.2542delG/À 1 1 0 0 GTGG/ATGA 5 c.2542delG/À 4 3 0 1 À/À 1 1 0 0 GTGA/GTGA 4 Del_Exon23/Del_Exon23 2 1 0 1 À/À 2 2 0 0 GTAA/GTAA 3 À/À 3 3 0 0 ATGA/GTGA 3 c.2542delG/À 2 2 0 0 À/À 1 0 0 1 ATGA/GTAA 3 p.E422K/c.2542delG 1 1 0 0 c.2542delG/À 1 1 0 0 À/À 1 0 0 1 GTGA/GTAA 2 À/À 2 1 1 0 GTAA/ACAA 2 c.2542delG/À 2 2 0 0 GTGG/GCGA 1 À/À 1 1 0 0 GTGG/ATGG 1 p.R419Q/p.R419Q 1 0 0 1 GTGA/GCGA 1 p.S587C/À 1 0 1 0 GTGA/GCAA 1 À/À 1 1 0 0 GTGA/ACAA 1 c.2542delG/c.3774-3775insC 1 0 1 0 GTAA/GCAA 1 p.A950V/À 1 0 1 0 GTAA/ATGG 1 p.E1427K/À 1 0 0 1 ATGA/ATGG 1 c.2542delG/À 1 1 0 0 For ABCC6 proteins, the designations for the mutations refer to the position of the amino acid substitution, where amino acid terminus. Nonsynonymous variants were shown by the amino acid numbers started by the strat codon methionine. The cDNA base numbers refer to the nucleotide in the cDNA, where nucleotide 1 is the A of the first ATG. Exon22 Exon23 Exon24 Wile Type 32nortnI22nortnI Exon22 Exon24 Mutation Type Intron23Intron22 Breakpoint (3901bp Deletion) Fig. 3. Login to comment
119 The most common alleles were c.2542delG (25.0%), p.R419Q (13.9%), Del_Exon23 (3.7%), followed by c.3774-3775insC, p.E422K, p.S587C, p.A950V and p.E1427K (all 0.93%). Login to comment
120 With regard to genotyping for each subject, 7 patients had c.2542delG/c.2542delG, 6 had p.R419Q/p.R419Q, 2 had Del_Exon23/Del_Exon23, 1 had c.2542delG/c.3774-3775insC and 1 had p.E422K/c.2542delG. Login to comment
157 Exon Mutation AS Control Decision Wild/Wild Wild/Mut Mut/Mut Wild/Wild Wild/Mut Mut/Mut Undetermine 10 c.1256G>A (p.R419Q) 45 3 6 150 0 0 0 * 10 c.1264G>A (p.E422K) 53 1 0 150 0 0 0 * 10 c.1283A>G (p.N428S) 54 0 0 148 2 0 0 # 10 c.1312G>A (p.V438M) 54 0 0 149 1 0 0 # 13 c.1760C>G (p.S587C) 53 1 0 149 1 0 0 # 14 c.1841T>C (p.V614A) 40 12 2 89 56 5 0 $ 15 c.1896C>A (p.H632Q) 30 15 9 90 55 5 0 $ 19 c.2542delG 34 13 7 149 1 0 0 * 22 c.2849C>T (p.A950V) 53 1 0 149 1 0 0 # 23 Del_Exon23 52 0 2 150 0 0 0 * 27 c.3803G>A (p.R1268Q) 29 16 9 105 42 3 0 $ 27 c.3774-3775insertC 53 1 0 147 0 0 3 * 30 c.4279G>A (p.E1427K) 53 1 0 150 0 0 0 * For ABCC6 proteins, the designations for the mutations refer to the position of the amino acid substitution, where amino acid terminus. Nonsynonymous variants were shown by the amino acid numbers started by the strat codon methionine. The cDNA base numbers refer to the nucleotide in the cDNA, where nucleotide 1 is the A of the first ATG. * Causal mutation definitely. Login to comment