Table 7.
Low-frequency variants in 3′ exon of C6orf10 detected by Sanger sequencing within the cohort of 120 unrelated MS patients.
| SNP position GRCh37/hg19 | SNP ID | Amino acid change | Provean/SIFT prediction | Nucleotide change | MAF % dbSNP150 | MAF % ExAC European (not Finnish) | MAF % Controls GnomAD European (not Finnish) | MAF % in 120 MS patients (n alleles) |
|---|---|---|---|---|---|---|---|---|
| 6:32260761 | – | Glu561Asp | (-1.16) neutral/ (0) damaging | C > G | – | – | – | 0.42 (1) |
| 6:32260769 | – | Val559Leu | (-0.86) neutral/ (0.31) damaging | C > G | – | – | – | 0.42 (1) |
| 6:32260774 | – | Lys557Ile | (-1.6) neutral/ (0.004) damaging | T > A | – | – | – | 0.42 (1) |
| 6:32260878∗ | – | Asp522Asp | neutral/tolerated | G > A | – | – | – | 1.25 (3) |
| 6:32260898∗ | – | Asp516Tyr | (-2.38) neutral/ (0.011) damaging | C > A | – | – | – | 0.42 (1) |
| 6:32260927∗ | – | Glu506Val | (-1.42) neutral/ (0.028) damaging | T > A | – | – | – | 0.42 (1) |
| 6:32260933∗ | rs766126891 | Asp504Val | (-2.42) neutral/ (0) damaging | T > A | 0.001 | – | – | 0.42 (1) |
| 6:32261014 | rs7751028 | Gly477Val | (-3.43) deleterious/ (0.008) damaging | C > A | 2.480 | 0.98 | 0.99 | 0.42 (1) |
| 6:32261075 | – | Lys457stop | Damaging | T > A | – | – | – | 0.42 (1) |
| 6:32261084 | – | Ser454Xfr | Damaging | A > insG | – | – | – | 0.42 (1) |
| 6:32261093 | – | Gly451stop | Damaging | C > A | – | – | – | 0.42 (1) |
| 6:32261158 | rs114543649 | Thr429Ser | (1.30) neutral/ (1) tolerated | G > C | 2.479 | 0.98 | 0.99 | 0.42 (1) |
| 6:32261277 | – | Ser389Xfr | Damaging | T > delT | – | – | – | 0.83 (2) |
| 6:32261291 | – | Gln385Glu | (1.38) neutral/ (1) tolerated | G > C | 2.482 | 0.98 | 0.99 | 0.42 (1) |
The sequenced 3′ exonic region spans chr6:32261295-32260757 (GRCh37/hg19). The reference transcript is ENST00000533191.5, and the reference protein is ENSP00000431199 (exon position 26/26). The Provean cut off: equal or below -2.5, deleterious; above -2.5, neutral. The SIFT score range prediction: 0.0 to 0.05 deleterious; 0.05 to 1.0 tolerated. All variants were detected in heterozygous condition with the exception of Ser389Xfr (homozygous condition, bold and black). ∗Position in repetitive regions.