Table 2 Prediction of the impact of amino acid changes on the protein structures and functions of 17 candidate variations by 6 web-based programs.
From: A novel loss-of-function mutation of PBK associated with human kidney stone disease
CHR. | POS. | Gene name | dbSNP | 1000 G Frequency | Effect | Nucleotide changes | Amino acid changes | Prediction* (of 6 programs) |
|---|---|---|---|---|---|---|---|---|
2 | 97783805 | ANKRD36 | rs571299992 | 0.00199681 | Missense variant | c.202 G > A | p.Ala68Thr | 5 |
8 | 27685647 | PBK | — | — | Missense variant | c.127 G > A | p.Gly43Arg | 5 |
1 | 85028969 | CTBS | rs3768249 | 0.0091853 | Missense variant | c.928 G > T | p.Asp310Tyr | 3 |
12 | 77427693 | E2F7 | rs139349075 | 0.00159744 | Missense variant | c.1253 A > G | p.Glu418Gly | 3 |
5 | 156769914 | FNDC9 | rs201701167 | 0.000399361 | Missense variant | c.631 G > T | p.Gly211Trp | 3 |
12 | 10588530 | KLRC2 | rs75545535 | — | Missense variant | c.56 G > C | p.Arg19Pro | 3 |
12 | 110944398 | RAD9B | rs552692137 | 0.000599042 | Missense variant | c.288 C > G | p.Ile96Met | 3 |
11 | 121466463 | SORL1 | — | — | Missense variant | c.4501 C > T | p.Arg1501Trp | 3 |
8 | 30701641 | TEX15 | rs142485241 | 0.00638978 | Missense variant | c.4893 G > C | p.Gln1631His | 3 |
2 | 98525148 | TMEM131 | rs535701294 | 0.00179712 | Missense variant | c.263 T > C | p.Leu88Pro | 3 |
22 | 20761028 | ZNF74 | rs190749586 | 0.000998403 | Missense variant | c.1705T > C | p.Ser569Pro | 3 |
9 | 34725069 | FAM205A | rs114933270 | — | Missense variant | c.2168 A > T | p.Glu723Val | 2 |
12 | 15035203 | MGP | rs374434209 | — | Missense variant | c.257 G > A | p.Arg86His | 2 |
18 | 77895740 | ADNP2 | rs113879497 | 0.00359425 | Missense variant | c.2444 A > G | p.Asn815Ser | 1 |
5 | 140229086 | PCDHA9 | rs251354 | — | Missense variant | c.1006 C > G | p.Leu336Val | 1 |
2 | 103149147 | SLC9A4 | rs79918239 | 0.00179712 | Stop retained variant | c.2397 G > A | p.Ter799= | 1 |
12 | 123810152 | SBNO1 | rs373314152 | 0.000199681 | Splice region variant & intron variant | c.1876-6 C > T | — | 0 |
