Table 1. Polymorphisms found in CALHM1 and CALHM3 genes coding regions.
| Gene | SNP | Coding triplet | HGVS reference | Protein position | Function | Amino acid change |
|---|---|---|---|---|---|---|
|
CALHM1 |
rs2986016 |
NA |
NG_016855.1:g.8633T > C |
NA |
UTR-3 |
NA |
| |
rs41287500 |
ATG → ATA |
NG_016855.1:g.8558G > A |
323 |
missense |
Met → Ile |
| |
rs41287502 |
GGT→ TGT |
NG_016855.1:g.8433G > T |
282 |
missense |
Gly → Cys |
| |
rs41317256 |
GTC → ATC |
NG_016855.1:g.5489G > A |
117 |
missense |
Val → Ile |
| |
rs2986017 |
CTG → CCG |
NG_016855.1:g.5397T > C |
86 |
missense |
Leu → Pro |
| |
rs4918016 |
CCG → CCA |
NG_016855.1:g.5395G > A |
85 |
synonymous |
Pro → Pro |
| |
rs2986018 |
GCA → GCG |
NG_016855.1:g.5290A > G |
50 |
synonymous |
Ala → Ala |
| |
rs146465393 |
GCC → ACC |
NG_016855.1:g.5228G > A |
30 |
missense |
Ala → Thr |
|
CALHM3 |
rs2986035 |
GAC → AAC |
NC_000010.10:g.105233110C > T |
299 |
missense |
Asp → Asn |
| rs3014199 | NA | NC_000010.10:g.105235925T > C | NA | intron | NA |