ABCD4 p.Ala304Thr
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PMID: 20661612
[PubMed]
Matsukawa T et al: "Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes."
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101
Gene Fragment SNP ID Category Amino acid change ABCD3 Exon1 rs4148058 5' untranslated region Exon2 rs2147794 Intron Exon3 rs16946 Coding synonymous Exon7 rs681187 Intron Exon23 rs662813 3' untranslated region Exon23 rs337592 3' untranslated region ABCD4 5'UTR rs17782508a Upstream at the transcription start site Intron1 rs17182959 Intron Intron1 rs17158118 Intron Exon3 rs2301345a Coding synonymous L62L Exon9 rs4148077a Coding nonsynonymous A304T Exon10 rs4148078a Coding synonymous L320L Exon11 rs3742801a Coding nonsynonymous E368K Table 4 Summary of identified single nucleotide polymorphism (SNPs) of ABCD2, ABCD3, and ABCD4 in 40 adrenoleukodystrophy patients: known SNPs A total of 24 SNPs of ABCD2, ABCD3, and ABCD4 were identified in 40 ALD patients. Among them, 11 SNPs (45.8%) were novel SNPs.
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ABCD4 p.Ala304Thr 20661612:101:443
status: NEW108 Among the SNPs with suggestive association in the Japanese patients (rs17782508, rs2301345, rs4148077, rs4148078, and rs3742801), rs4148077 (A304T) substitutes a hydrophilic amino acid for a hydrophobic amino acid, and rs3742801 (E368K) substitutes a basic amino acid for an acidic amino acid.
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ABCD4 p.Ala304Thr 20661612:108:141
status: NEW