Table 1. Nucleotide substitutions in... | American Society of Hematology

Table 1.

Nucleotide substitutions in ABCA1 in the SS proband

Exon	Nucleotide^*	Codon†	Base substitution	Amino acid substitution	Comments	Reference (variant db SNP rsID)
1	273	5′ UTR	hmz G	None	Polymorphism	Pullinger et al²⁹
2	368-70	Leu 26	hmz CTG	None	CTG in general sequence	Pullinger et al²⁹
5	764	Leu 158	htz A/G	None	Polymorphism	Clee et al³⁰ (rs 2230805)
6	947	Arg 219	htz G/A	R→K	Polymorphism	Wang et al³¹ (rs 2230806)
8	1226	Pro 312	htz C/T	None	Polymorphism	(rs 2274873)
14	2330	Ile 680	hmz C	None	Polymorphism	Wang et al³¹ (rs 7031748)
16	2763	Ile 825	hmz G	I→V	Polymorphism	Wang et al³¹ (rs 4149312)
17	2930	Met 883	hmz A	M→I	Polymorphism	Wang et al³¹ (rs 4149313)
42	6064	Arg 1925	htz G/A	R→Q	Novel, rare	Present paper

Exon	Nucleotide^*	Codon†	Base substitution	Amino acid substitution	Comments	Reference (variant db SNP rsID)
1	273	5′ UTR	hmz G	None	Polymorphism	Pullinger et al²⁹
2	368-70	Leu 26	hmz CTG	None	CTG in general sequence	Pullinger et al²⁹
5	764	Leu 158	htz A/G	None	Polymorphism	Clee et al³⁰ (rs 2230805)
6	947	Arg 219	htz G/A	R→K	Polymorphism	Wang et al³¹ (rs 2230806)
8	1226	Pro 312	htz C/T	None	Polymorphism	(rs 2274873)
14	2330	Ile 680	hmz C	None	Polymorphism	Wang et al³¹ (rs 7031748)
16	2763	Ile 825	hmz G	I→V	Polymorphism	Wang et al³¹ (rs 4149312)
17	2930	Met 883	hmz A	M→I	Polymorphism	Wang et al³¹ (rs 4149313)
42	6064	Arg 1925	htz G/A	R→Q	Novel, rare	Present paper

Variant db SNP rsID: rsID is the dbSNP-assigned reference SNP ID.

UTR indicates untranslated region; hmz, homozygous; htz, heterozygous.

Based on published sequence for cDNA (GenBank accession no. AF285167).

Based on ATG start codon = bp 291-3 in cDNA sequence above.