Table 2.
Location, frequency, and in-silico functional prediction of the three mutations identified in this study.
| Gene Name and dbSNP Number | Location | Allele Frequency | Functional Prediction | |||||
|---|---|---|---|---|---|---|---|---|
| Taiwan Biobank | ALFA | TOPMED | 1000 Genomes | PROVEAN (Score) | PolyPhen-2 (Score) | SIFT (Score) | ||
| BSN rs200987266 |
NC_000003.11:g.49690249G > A NM_003458.3:c.3260G > A NM_003458.3:p.Arg1087Gln |
0 | 0 | 0.000008 | 0.0002 | Deleterious (−3.16) |
Probably damaging (1.000) |
Damaging (0.000) |
| PCLO rs757482765 |
NC_000007.13:g.82585665G > A NM_033026.5:c.4604C > T NM_033026.5:p.Ser1535Leu |
0 | 0 | 0.000032 | 0.000056 | Deleterious (−2.67) |
Probably damaging (0.999) |
Damaging (0.002) |
| PCLO rs141283244 |
NC_000007.13:g.82387895T > C NM_033026.5:c.15425A > G NM_033026.5:p.His5142Arg |
0.00824 | 0 | 0.000191 | 0.000229 | Deleterious (−3.27) |
Probably damaging (0.996) |
Damaging (0.002) |
ALFA: Allele Frequency Aggregator Project; TOPMED: Trans-Omics for Precision Medicine Whole Genome Sequencing Project; 1000Genomes: 1000 Genomes project; PROVEAN: Protein Variation Effect Analyzer; PolyPhen-2: Polymorphism Phenotyping v2; SIFT: Sorting intolerant from tolerant.