Polymorphisms of the β-Spectrin Gene and Their Prevalence
Designation . | Nucleotide Change . | Amino Acid Change . | Exon . | Restriction Enzyme . | Prevalence (%) −RE/+RE* . |
---|---|---|---|---|---|
503C → T | C → T at position 503 | His → His at codon 136 | 4 | NlaIII | 90.7/9.3 |
N439S | A → G at position 1411 | Asn → Ser at codon 439 | 11 | Dde I | 49.1/50.9 |
2249C → A | C → A at position 2249 | Ileu → Ileu at codon 718 | 14 | SfaNI | 71.2/28.8 |
D1151N | G → A at position 3546 | Asp → Asn at codon 1151 | 16 | SfaNI | 34.5/65.5 |
5630C → T | C → T at position 5630 | Val → Val at codon 1845 | 26 | Sac I | 7.5/92.5 |
Designation . | Nucleotide Change . | Amino Acid Change . | Exon . | Restriction Enzyme . | Prevalence (%) −RE/+RE* . |
---|---|---|---|---|---|
503C → T | C → T at position 503 | His → His at codon 136 | 4 | NlaIII | 90.7/9.3 |
N439S | A → G at position 1411 | Asn → Ser at codon 439 | 11 | Dde I | 49.1/50.9 |
2249C → A | C → A at position 2249 | Ileu → Ileu at codon 718 | 14 | SfaNI | 71.2/28.8 |
D1151N | G → A at position 3546 | Asp → Asn at codon 1151 | 16 | SfaNI | 34.5/65.5 |
5630C → T | C → T at position 5630 | Val → Val at codon 1845 | 26 | Sac I | 7.5/92.5 |
+RE refers to the presence of the intact restriction enzyme site while −RE refers to the absence of the restriction enzyme site.