Table 4: Overview of the LZTS1 variants identified in patients with EDS-HT or BJHS.

cDNAProteinSIFTPolyPhen-2AlignMutation
GVGDTaster

c.633C>Ap.(His211Gln)ToleratedProbably damagingC0Disease-causing
c.49C>Gp.(His17Asp)ToleratedProbably damagingC0Disease-causing
c.1585C>Tp.(Arg529Trp)DeleteriousProbably damagingC0Disease-causing
c.749C>Ap.(Ser250)