View of the predicted tridimensional protein structure of TMEM63B from the extracellular side. All the variants in our cohort map into a transmembrane (TM) helix: p.Val44Met (V44M) in TM1 (dark green helix), p.Arg433His (R433H), p.Asp459Glu (D459E), p.Val463Ile (V463I), p.Ile475del (I475del), and p.Thr481Asn (T481N) in TM4 and TM5 (blue helices), p.Gly580Ser (G580S) in TM7 (orange helix), p.Arg660Thr (R660T) in TM8 (pink helix), and p.Phe697Leu (F697L) in TM9 (light green helix). Dotted line indicates the plasma membrane, OUT the extracellular side and IN the intracellular (cytoplasmic) side. Details of selected variants are provided in the inlets.
