ABCMdb

PMID: 25234129

Zhang Y, Liu Y, Li Y, Duan Y, Zhang K, Wang J, Dai Y
Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.
BMC Med Genet. 2014 Sep 19;15:105. doi: 10.1186/s12881-014-0105-6., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCD1 p.Glu376Gln The ABCD1 mutation was a missense mutation c.1126G > C in exon 3 leading to a p.E376Q substitution. Login to comment 104 ABCD1 p.Glu376Gln The ABCD1 mutation was a missense mutation c.1126G > C in exon 3, leading to a p. E376Q substitution (Figure 6), and the DACH2 mutation was also a missense mutation c.1069A > Tc.1069A > T in exon 6, leading to ap.S357C substitution (Figure 7). Login to comment 108 ABCD1 p.Glu376Gln nlm.nih.gov/Blast.cgi) indicated that both the mutations, c.1126G > C transition (E376Q) of ABCD1 and c.1069A > T transition (p.S357C) of DACH2, occurred in highly conserved positions (Figure 6, 7). Login to comment 110 ABCD1 p.Glu376Gln The variant c.1126G > C transition (E376Q) of ABCD1 was considered likely to be functionally benign, while the variant c.1069A > T transition (p.S357C) of DACH2 was likely to be functionally damaging. Login to comment 118 ABCD1 p.Glu376Gln The ABCD1 mutation was a novel missense mutation, c.1126G > C transition (E376Q), in exon 3. Login to comment 132 ABCD1 p.Glu376Gln E376Q missense mutation was at a highly conserved position in ABCD1 shown by comparison to the corresponding sequence of six vertebrates (lower panel). Login to comment 148 ABCD1 p.Glu376Gln ABCD1 p.Ser379Arg Although PolyPhen-2 predicted that the biophysical consequences of the variant c.1126G > C (E376Q) of ABCD1 were likely to be functionally benign, other variants in the same exon, such as c.1114A > T (p. K372*) and c.1137C > G (p.S379R), have been reported to lead to ALD [15]. Login to comment