ABCA8 p.Val287Ile
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PMID: 12821155
[PubMed]
Wenzel JJ et al: "ABCA10, a novel cholesterol-regulated ABCA6-like ABC transporter."
No.
Sentence
Comment
141
Two SNPs represent silent mutations (504G/A and 783C/T), whereas three SNPs cause amino acid substitutions (607C/T, P203S; 859G/A, V287I; and 3647T/G, I1216R).
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ABCA8 p.Val287Ile 12821155:141:131
status: NEW153 Table 3 Single nucleotide polymorphisms in the ABCA10 exon regions Variant name Nucleotide position Exon Amino acid change )438 A/C )438 2 nc )300 A/C )300 3 nc 504 G/A 504 7 sm 607 C/T 607 8 P203S 783 C/T 783 9 sm 859 G/A 859 10 V287I 3647 T/G 3647 31 I1216R Nucleotide position 1 refers to the first base of the start codon (base position 911).
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ABCA8 p.Val287Ile 12821155:153:230
status: NEW