ABCD1 p.Ala99Asp
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PMID: 11438993
[PubMed]
Dvorakova L et al: "Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange."
No.
Sentence
Comment
46
Phenotype (years) Therapy Exon (ATG=1) Allele residues site Polymorphisms 1 1 ccALD 15 None 1 c.97-100 Fs V32 +BsmFI c.2246 G>C del/TACC 2 2 ccALD 6 LO, GTO, BMT 1+IVS1 g.697-925/del 3 3 AMN 33 LO, GTO 3 c.1092/del/C Fs E363 -BsuRI 4 4 ccALD Died at None 5 c.1415-1416/del Fs E471 +TaaIe the age of 9 AGf 5 5 AMN 20 LO, GTO 1 c.293 C>Tg S98L TMS 1c -Eco52I c.2019 C>T c.2246 G>C 6 6 AMN 18 LO, GTO 1 c.296 C>A A99D TMS 1 +BsaHI c.1548 G>A c.2246 G>C 7 7a ADO 14 LO, GTO 1 c.649 A>G K217E TMS 3 +AvaIe c.38 A>C 7 7b ADO 9 LO, GTO 1 c.649 A>G K217E TMS 3 +AvaIe c.38 A>C 8 8 AMN 22 LO, GTO 6 c.1553 G>Ah R518Q Walker Ad +PflMI 9 9 ccALD 17b LO, GTO 8 c.1823 G>A G608D C sequenced +HphI c.-59 C>T c.1548 G>A c.2246 G>C 10 10 Asymptomatic 9 LO,GTO 9 c.1898 G>T S633I Conserved in mouse +MslI 11 11 ccALD 9 None 9 c.1979 G>C R660P Conserved in mouse -Cfr10I a Novel variants in boldface type.
X
ABCD1 p.Ala99Asp 11438993:46:410
status: NEW