ABCA12 p.Leu2459Arg
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PMID: 17082782
[PubMed]
Akiyama M et al: "DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences."
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Sentence
Comment
60
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.
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ABCA12 p.Leu2459Arg 17082782:60:72
status: NEW61 7436G>A 2,490 Exon 51Exon 50 Short name p. Arg2479Lys WT ∆4 "06;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 HIKNHK NHK HIK 289 kDa298 kDa 250 kDa p.Arg2479Lys d c b a Figure 2.
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ABCA12 p.Leu2459Arg 17082782:61:72
status: NEW