Sample size and citation Variations mentioned in studies (abundance in % if known) Variations mentioned in studies (abundance in % if known) Variations mentioned in studies (abundance in % if known) Variations mentioned in studies (abundance in % if known) Variations mentioned in studies (abundance in % if known) Variations mentioned in studies (abundance in % if known) Variations mentioned in studies (abundance in % if known) Variations mentioned in studies (abundance in % if known)
4573 variations annotated with RTT causing (this study) Thr158Met (10.1) Arg168* (8.9) Arg255* (7.5) Arg270* (6.8) Arg294* (6.1) Arg306Cys (6.1) Arg133Cys (5.4) Arg106Trp (3.5)
301 RTT patients (Bienvenu et al., 2002) Thr158Met (7.8) Arg168* (11.5) Arg255* (10.9) Arg270* (10.5) Arg306Cys (6.8)
819 RTT patients (Percy et al., 2010) Thr158Met (11.0) Arg168* (10.4) Arg255* (11.0) Arg270* (5.5) Arg294* (6.3) Arg306Cys (6.9) Arg133Cys (3.8) Arg106Trp (3.1)
RettBase 4668 total entries (Krishnaraj et al., 2017) Thr158Met Arg168* Arg255* Arg270* Arg294* Arg306Cys Arg133Cys Arg106Trp