ABCD1 p.Ser379Arg
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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."
No.
Sentence
Comment
148
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.Ser379Arg 25234129:148:230
status: NEW