ABCD1 p.Glu376Gln
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PMID: 25234129
[PubMed]
Zhang Y et al: "Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype."
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The ABCD1 mutation was a missense mutation c.1126G > C in exon 3 leading to a p.E376Q substitution.
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ABCD1 p.Glu376Gln 25234129:5:80
status: NEW104 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).
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ABCD1 p.Glu376Gln 25234129:104:82
status: NEW108 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).
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ABCD1 p.Glu376Gln 25234129:108:82
status: NEW110 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.
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ABCD1 p.Glu376Gln 25234129:110:36
status: NEW118 The ABCD1 mutation was a novel missense mutation, c.1126G > C transition (E376Q), in exon 3.
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ABCD1 p.Glu376Gln 25234129:118:74
status: NEW132 E376Q missense mutation was at a highly conserved position in ABCD1 shown by comparison to the corresponding sequence of six vertebrates (lower panel).
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ABCD1 p.Glu376Gln 25234129:132:0
status: NEW148 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].
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ABCD1 p.Glu376Gln 25234129:148:92
status: NEW