PMID: 12821155

Wenzel JJ, Kaminski WE, Piehler A, Heimerl S, Langmann T, Schmitz G
ABCA10, a novel cholesterol-regulated ABCA6-like ABC transporter.
Biochem Biophys Res Commun. 2003 Jul 11;306(4):1089-98., [PubMed]
Sentences
No. Mutations Sentence Comment
141 ABCA8 p.Val287Ile
X
ABCA8 p.Val287Ile 12821155:141:131
status: NEW
view ABCA8 p.Val287Ile details
ABCA10 p.Pro203Ser
X
ABCA10 p.Pro203Ser 12821155:141:116
status: NEW
view ABCA10 p.Pro203Ser details
 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). Login to comment 153 ABCA8 p.Val287Ile
X
ABCA8 p.Val287Ile 12821155:153:230
status: NEW
view ABCA8 p.Val287Ile details
ABCA10 p.Pro203Ser
X
ABCA10 p.Pro203Ser 12821155:153:192
status: NEW
view ABCA10 p.Pro203Ser details
 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). Login to comment