Research Article
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family
Table 4
Overview of the LZTS1 variants identified in patients with EDS-HT or BJHS.
| | cDNA | Protein | SIFT | PolyPhen-2 | Align | Mutation | | GVGD | Taster |
| | c.633C>A | p.(His211Gln) | Tolerated | Probably damaging | C0 | Disease-causing | | c.49C>G | p.(His17Asp) | Tolerated | Probably damaging | C0 | Disease-causing | | c.1585C>T | p.(Arg529Trp) | Deleterious | Probably damaging | C0 | Disease-causing | | c.749C>A | p.(Ser250) | — | — | — | — |
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