Skip to main content
. 2021 Jan 27;140(5):805–812. doi: 10.1007/s00439-020-02246-z

Fig. 3.

Fig. 3

Missense3D-DB: detailed structural analysis for variant p.Cys68Arg in the LDLR (NM_000527.4(LDLR):c.202T > C). This variant, annotated in the ClinVar database as “conflicting interpretations of pathogenicity”, disrupts the disulphide bridge between cysteine 68 (corresponding to residue Cys 47 in the 3D experimental structure PDB: 5oyl) and cysteine 82 (corresponding to residue Cys 61 in the same 3D structure)