ABCA3 p.His1255Gln
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PMID: 18628224
[PubMed]
Young LR et al: "Usual interstitial pneumonia in an adolescent with ABCA3 mutations."
No.
Sentence
Comment
56
Sequencing of ABCA3 revealed three novel heterozygous variants: c1-28AϾG, predicted to cause elimination of the splice acceptor site for the first translated exon, IVS9 ϩ 11CϾT (intron 9), and c3765CϾG, resulting in substitution of glutamine for histidine in codon 1255 (H1255Q).
X
ABCA3 p.His1255Gln 18628224:56:256
status: NEWX
ABCA3 p.His1255Gln 18628224:56:295
status: NEW57 H1255Q was identified in the single parent available for testing, indicating that it is likely in trans to the other variants, although the possibility of de novo mutational events cannot be excluded.
X
ABCA3 p.His1255Gln 18628224:57:0
status: NEW59 Sequencing of ABCA3 revealed three novel heterozygous variants: c1-28Ab0e;G, predicted to cause elimination of the splice acceptor site for the first translated exon, IVS9 af9; 11Cb0e;T (intron 9), and c3765Cb0e;G, resulting in substitution of glutamine for histidine in codon 1255 (H1255Q).
X
ABCA3 p.His1255Gln 18628224:59:256
status: NEWX
ABCA3 p.His1255Gln 18628224:59:295
status: NEW60 H1255Q was identified in the single parent available for testing, indicating that it is likely in trans to the other variants, although the possibility of de novo mutational events cannot be excluded.
X
ABCA3 p.His1255Gln 18628224:60:0
status: NEW