Table 8.
Low-frequency variant genotypes in 3′ exon of C6orf10 within the unrelated MS patients.
| ID | Gender | Age of MS onset | Phenotype at examination | C6orf10 |
|---|---|---|---|---|
| 138 ZM | F | 21 | RR | Ser454Xfr (Het) |
| 221 ZM | M | 22 | RR | Val559Leu (Het) Glu561Asp (Het) |
| 150 ZM | F | 25 | RR | Ser389Xfr (Hom) |
| 194 ZM | F | 31 | RR | Gln385Glu (Het) Thr429Ser (Het) Gly477Val (Het) |
| 106 ZM | M | 32 | SP | Asp504Val (Het)∗ Asp522Asp (Het)∗ |
| 128 ZM | F | 32 | RR | Glu506Val (Het)∗ |
| 109 ZM | F | 37 | SP | Asp522Asp (Het)∗ |
| 115 ZM | F | 38 | SP | Lys457stop (Het) |
| MS23 | F | 38 | RR | Gly451stop (Het) |
| 112 ZM | F | 41 | RR | Lys557Ile (Het) |
| 25-WP3 | F | 51 | PP | Asp516Tyr (Het)∗ |
| 65-WP3 | F | 51 | SP | Asp522Asp (Het)∗ |
MS patients carrying low-frequency C6orf10 variants (within the region chr6:32261295-32260757) are reported. The heterozygous (Het) or homozygous (Hom) condition of the variants is specified. In bold and black, the C6orf10 stop and frame shift variants. ∗C6orf10 variants in repetitive regions.