Variant1-a | Effect | WT Sequence1-b (5′-3′) | Mutation Sequence1-b(5′-3′) | Caucasians | Africans | ||
---|---|---|---|---|---|---|---|
N | % | N | % | ||||
Exon 2 | |||||||
c.52G>A | E18K | ACTGTGAGGAC | ACTGTAAGGAC | 300 | 0.0 | 74 | 1.4 |
c.79C>T | P27S | GAAAGCCCAGT | GAAAGTCCAGT | 300 | 0.0 | 74 | 14.9 |
c.106G>A | G36R | AAGTCGGAGGT | AAGTCGGAGGT | 300 | 3.0 | 74 | 0.0 |
Exon 4 | |||||||
c.418G>A | V140M | TGGGAGTGCAG | TGGGAATGCAG | 418 | 0.2 | 74 | 0.0 |
c.488A>G | D163G | CTTTGACACTA | CTTTGGCACTA | 418 | 0.0 | 74 | 1.4 |
Exon 8 | |||||||
c.1108G>A | A370T | AATTCGCCATT | AATTCACCATT | 312 | 0.0 | 64 | 1.6 |
WT, wild-type; N, number of chromosomes analyzed.
↵1-a The nomenclature of the variants is based on Antonarakis and the Nomenclature Working Group (1998). As the translation initiation site, the CTG with the C at position 280 of the cDNA (GI 3769538) is numbered +1. The nucleotide 5′ to +1 is numbered −1.
↵1-b The variant position is indicated in bold.