ABCMdb

ABCD4 p.Glu368Lys

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Publications

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."

No. Sentence Comment

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. Login to comment
108 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. Login to comment

PMID: 23754956 [PubMed] Grarup N et al: "Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets."

No. Sentence Comment

88 SNV name Locus Chr. Position (build 36/hg18) Annotation 1 Alleles 2 (effect/other) EAF Icelandic Danish - Inter99 Danish - Health2006 Combined Effect P Effect P Effect P N P I 2 ( P HET ) Novel loci rs2336573 CD320 19 8,273,709 G220R T/C 0.031 0.32 1.1610 251 0.22 0.0057 0.31 1.7610 28 45,575 8.4610 259 41 (0.033) rs1131603 TCN2 22 29,348,975 L376S C/T 0.055 0.19 4.3610 228 0.33 1.8610 29 0.33 5.3610 217 45,575 4.9610 249 62 (0.0050) rs3742801 ABCD4 14 73,828,759 E368K T/C 0.294 0.045 5.3610 28 0.093 7.6610 24 0.083 4.5610 25 45,571 1.7610 213 0 (0.20) rs2270655 MMAA 4 146,795,868 Q363H G/C 0.941 0.066 3.5610 25 0.30 2.8610 27 0.25 5.8610 28 45,576 2.2610 213 79 (7.1610 25 ) rs12272669 MMACHC 1 45,747,242 R206Q A/G 0.0022 0.51 3.0610 29 - - - - - - - Novel SNV associations in reported loci rs34324219 TCN1 11 59,379,954 D301Y C/A 0.881 0.21 8.8610 271 0.40 3.2610 223 0.30 3.5610 224 45,576 1.1610 2111 70 (0.001) rs7788053 3 FUT6 19 5,783,209 P124S A/G 0.254 0.046 2.1610 27 0.050 0.076 0.070 0.00072 45,575 1.7610 210 0 (0.64) Reported associated SNVs rs602662 FUT2 19 53,898,797 G258S A/G 0.596 0.16 4.1610 296 0.19 3.5610 213 0.23 1.9610 234 45,568 2.4610 2139 0 (0.14) rs1801222 CUBN 10 17,196,157 F253S G/A 0.593 0.11 1.1610 252 0.14 7.6610 28 0.17 2.9610 218 45,576 3.3610 275 0 (0.48) rs41281112 CLYBL 13 99,316,635 R259X C/T 0.948 0.17 9.6610 227 0.24 0.0013 0.29 2.5610 27 45,576 8.9610 235 0 (0.90) rs1141321 4 MUT 6 49,520,392 R532H C/T 0.627 0.061 1.4610 216 0.12 3 1.4610 25 0.11 1.4610 27 45,574 3.6610 226 0 (0.24) Association results for serum B 12 in Icelandic and Danish study samples separately and combined. Login to comment