ABCD1 p.Arg236His
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PMID: 12175782
[PubMed]
Guimaraes CP et al: "Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene."
No.
Sentence
Comment
107
R236H.
X
ABCD1 p.Arg236His 12175782:107:0
status: NEW109 After sequencing two missense mutations-R236H and G512S-were found.
X
ABCD1 p.Arg236His 12175782:109:40
status: NEW112 Thus, it cannot be ascertained at this moment whether the R236H alteration (a conservative amino acid substitution) is a disease-causing mutation per se.
X
ABCD1 p.Arg236His 12175782:112:58
status: NEW