Table 3.
Summary of APOC2 gene mutations
| Type | Nucleotide change | Amino acid change | APOC2 level | Ref. |
|---|---|---|---|---|
| promoter | c.-86A > G | N/A | undetectable | 18 |
| missense | c.1A > G | M1V(ApoCII Paris) | undetectable | 11 |
| missense | c.142 T > C | W48R(ApoCII Wakayama) | undetectable | 14 |
| missense | c.281 T > C | L94P(ApoCII Hongkong) | n.d. | 15 |
| nonsense | c.177C > G | Y59*(ApoCII Bari) | undetectable | 9 |
| nonsense | c.177C > A | Y59*(ApoCII Padova) | very low | 12 |
| nonsense | c.10C > T | R4*(ApoCII Paris2) | undetectable | 17 |
| nonsense | c.255C > A | Y85*(ApoCII Auckland) | undetectable | 19 |
| deletion | c.270delT | frameshift(ApoCII Toronto) | undetectable | 8 |
| deletion | c.118delG | frameshift(ApoCII Nijmegen) | undetectable | 13 |
| deletion | c.70delC | frameshift(ApoCII Jap/ven) | undetectable | 20 |
| gross-del | Loss of E2,3,4 | untranslated(ApoCII Tuzla) | undetectable | 16 |
| insertion | c.274dupC | frameshift(ApoCII St.Michael) | n.d. | 7 |
| splicing | IVS2 ds G-C +1 | c.55 + 1G > C(ApoCII Hamburg) | very low | 10 |
| del-ins | c.86A > CC | frameshift(ApoCII Shanghai) | very low |