Table 1.

Distribution of RINT1 rare variants (with frequency < 0.5%) identified in the BCFR cases and controls

Variant typeVariantEffect on proteinControlCaseAlign-GVGDPolyPhen2.1 (Q6NUQ1, Hum Div)
In-frame delc.1329delA; 1334-1_1335delGTTp.(Phe445_Ala446delinsSer)01N/AN/A
In-frame delc.2361G>Ap.W787a11N/AN/A
Missensec.281C>Gp.T94R10C65Prob. Dam.
Missensec.301A>Gp.K101E10C55Poss. Dam.
Missensec.319T>Gp.L107V01C25Prob. Dam.
Missensec.376C>Tp.H126Y11C0Benign
Missensec.388G>Ap.A130T33C0Benign
Missensec.413C>Tp.A138V13C65Benign
Missensec.501A>Tp.Q167H01C15Benign
Missensec.532T>Cp.Y178H01aC65Benign
Missensec.736C>Ap.P246T11C0Benign
Missensec.778G>Tp.A260S01C0Benign
Missensec.782C>Tp.P261L11C65Benign
Missensec.1025T>Cp.M342T01C45Benign
Missensec.1121G>Ap.R374Q01C35Prob. Dam.
Missensec.1256C>Gp.P419R01C0Prob. Dam.
Missensec.1270A>Tp.S424C01C15Benign
Missensec.1385C>Tp.S462L01C65Prob. Dam.
Missensec.1449G>Tp.M483I10C0Benign
Missensec.1465A>Gp.I489V01C0Benign
Missensec.1519G>Ap.E507K02C55Poss. Dam.
Missensec.1562C>Tp.T521I01C65Prob. Dam.
Missensec.1949C>Tp.P650L01C65Prob. Dam.
Missensec.1985T>Cp.L662S01C65Prob. Dam.
Missensec.2036T>Cp.V679A01C0Benign
Missensec.2090A>Gp.N697S01C45Prob. Dam.
Missensec.2128C>Tp.R710W01C65Prob. Dam.
Missensec.2159G>Tp.C720F01C65Prob. Dam.
Missensec.2176T>Cp.Y726H01C65Poss. Dam.
Missensec.2179T>Cp.F727L10C15Prob. Dam.
Missensec.2362C>TP788S01aC65Prob. Dam.
Total Rare Variants1231
Total Likely Pathogenic623
  • aThis case carries both p.Y178H and p.P788S. Only p.P788S was considered in the analyses. Variants highlighted in bold are deemed likely pathogenic, defined as A-GVGD score > C0 or PolyPhen “probably damaging.”