ABCMdb

PMID: 17082782

Akiyama M, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P, Jossic F, Hovnanian A, Shimizu H
DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.
J Invest Dermatol. 2007 Mar;127(3):568-73. Epub 2006 Nov 2., [PubMed]

Sentences

No. Mutations Sentence Comment

54 ABCA12 p.Arg2479Lys Transcript p.Arg2479Lys corresponds to the full-length ABCA12 transcript carrying a lysine residue in place of the arginine 2479. Login to comment 55 ABCA12 p.Arg2479Lys Transcript p.Arg2479Lys corresponds to the full-length ABCA12 transcript carrying a lysine residue in place of the arginine 2479. Login to comment 60 ABCA12 p.Arg2479Lys ABCA12 p.Leu2459Arg Interestingly, transcript D63 predicts a truncated protein deleted from Leucine 2459 to Arginine 2479 (p.Leu2459_Arg2479del) owing to an in WT cDNA c.7436G>A P.Arg2479Lys C.7433_7436del C.7394_7436del C.7387_7436del p.Leu2141_Arg2479del c.7344_7436del p.Ser2130_Ser2478del C.7374_7436del p.Lys2148_Arg2479>LeufsX11 p.Asn2146_Arg2479>Trpfsx13 C.7406_7436del p.Arg2479>LeufsX11 p.Ile2152_Arg2479>LeufsX11 WT protein Amino-acid position Exon 49 2,130 2,460 2,470 2,480 c. Login to comment 61 ABCA12 p.Arg2479Lys ABCA12 p.Arg2479Lys ABCA12 p.Arg2479Lys ABCA12 p.Leu2459Arg 7436G>A 2,490 Exon 51Exon 50 Short name p. Arg2479Lys WT ∆4 "06;31 ∆43 ∆;50 ∆63 ∆93 ∆63 ∆50 ∆43 "06;4 "06;93 750 500 250 3,600 2,400 1,200 0 300 330 360 390 420 0 HIKNHK NHK HIK 289 kDa298 kDa 250 kDa p.Arg2479Lys d c b a Figure 2. Login to comment 62 ABCA12 p.Arg2479Lys ABCA12 p.Arg2479Lys 7436G>A 2,490 Exon 51 Exon 50 Short name p. Arg2479Lys WT ࢞4 ࢞31 ࢞43 ࢞50 ࢞63 ࢞93 ࢞63 ࢞50 ࢞43 ࢞4 ࢞93 750 500 250 3,600 2,400 1,200 0 300 330 360 390 420 0 HIK NHK NHK HIK 289 kDa 298 kDa 250 kDa p.Arg2479Lys d c b a Figure 2. Login to comment 68 ABCA12 p.Arg2479Lys Splice variants include the correctly spliced product (p.Arg2479Lys) and six aberrantly spliced forms leading to out-of-frame (transcripts D4, D31, D43, and D50) and in-frame (D63 and D93) deletions. Login to comment 69 ABCA12 p.Arg2479Lys Splice variants include the correctly spliced product (p.Arg2479Lys) and six aberrantly spliced forms leading to out-of-frame (transcripts D4, D31, D43, and D50) and in-frame (D63 and D93) deletions. Login to comment 72 ABCA12 p.Arg2479Lys The peak at 422 bp corresponds to the full-length transcript, arising either from the wild-type alleles (in NHK) or from the allele carrying the p.Ser1249Term null mutation and from the allele carrying the p.Arg2479Lys mutation (in HIK). Login to comment 73 ABCA12 p.Arg2479Lys The peak at 422 bp corresponds to the full-length transcript, arising either from the wild-type alleles (in NHK) or from the allele carrying the p.Ser1249Term null mutation and from the allele carrying the p.Arg2479Lys mutation (in HIK). Login to comment 84 ABCA12 p.Arg2479Lys Interestingly, the height of the peak at 422 bp which arises from both the p.Arg2479Lys transcript and from the transcript synthesized from the other ABCA12 allele carrying the p.Ser1249Term mutation is weak, indicating that the amount of both transcripts is low. Login to comment 85 ABCA12 p.Arg2479Lys Interestingly, the height of the peak at 422 bp which arises from both the p.Arg2479Lys transcript and from the transcript synthesized from the other ABCA12 allele carrying the p.Ser1249Term mutation is weak, indicating that the amount of both transcripts is low. Login to comment 113 ABCA12 p.Arg2479Lys Although, small amounts of a full-length ABCA12 protein carrying the p.Arg2479Lys mutation may theoretically be synthesized, they were not detected. Login to comment 114 ABCA12 p.Arg2479Lys Although, small amounts of a full-length ABCA12 protein carrying the p.Arg2479Lys mutation may theoretically be synthesized, they were not detected. Login to comment