Table 5. The 12 human TGM2 homozygotes related to 6 nsSNVs.
| Position and Change | Allele Frequency [%] | Domains | Stability ΔΔG [kcal/mol] | PolyPhen/ SIFT | Number of Homozygote Individuals | Population | |
|---|---|---|---|---|---|---|---|
| Closed Form | Open Form | ||||||
| R76H | 0.47 | β-sandwich | 0 | 0.57 | Benign | 5 | • 2 East Asian • 3 Latino |
| R222Q | 0.048 | Catalytic | -0.98 | 0.71 | Probably damaging | 1 | • South Asian |
| R433Q | 0.10 | Catalytic | 0.67 | 0.51 | Benign | 1 | • South Asian |
| V542F | 0.38 | β-barrel 1 | 2.29 | -1.11 | Probably damaging | 3 | • 2 East Asian • 1 African |
| P612T | 0.018 | β-barrel 2 | 2.26 | 3.83 | Probably damaging | 1 | • South Asian |
| D671N | 0.013 | β-barrel 2 | 1.17 | 0.10 | Benign | 1 | • African |
Column 1 homozygous nsSNVs in TGM2; column 2 allele frequency of the given nsSNV; column 3 shows domain location in TGM2; column 4, 5 stability values in closed and opened conformation; column 6 PolyPhen/SIFT scores; column 7 presents number of homozygote individuals for each nsSNV and column 8 indicates population distribution of the 12 homozygote individuals. The dbSNP identifiers of the TGM2 homozygous nonsynonymous variants: p.Arg76His (rs41274720), p.Arg222Gln (rs200551434), p.Arg433Gln (rs142184177), p.Val542Phe (rs115436227), p.Pro612Thr (rs199563008), p.Asp671Asn (rs141236503).