Table IIA.

Classification of probable pathogenic mutations: Missensea

Mutation DesignationGDbOrthologs GVcProtein Domain ConservationdSplicing PredictionseSegregation AnalysisfOther DescriptiongOther Indeterminate VarianthVariant ScoreiMutation Groupj
PKD1
    C230S1120WSC (I)N/PS2NovelY11B
    C259Y1940WSC (I)N/PN/ANovelY11B
    Y325C1940PKDI (C)N/PN/ANovelN12B
    G381S560N/DN/PF93X + G381Ck2N, 1Y17B
    A432V640C-lectin (HC)ND (0.11)N/ANovelN11B
    C436Y1940C-lectin (I)N/PN/ANovelN14B
    C508R1800C-lectin (HC)N/PF6NovelN17B
    L605R10215N/DN/PF3NovelN11B
    L727P985N/DN/PF3NovelN11B
    W967R1010PKDII (HC)N/PN/A1XkN13B
    Y1412D1600PKDVIII (C)N/PN/ANovelN11B
    G1503R1250PKDIX (HC)N/PN/ANovelN11B
    N1870H680PKDXIII (HC)N/PN/ANovelN10C
    G1999S560PKDXV (C)N/PN/ANovel, G1999VN10C
    G1999V1090PKDXV (C)N/PN/ANovel, G1999SY8C
    G2278R12560REJ (I)N/PN/ANovelN9C
    H2297P7729REJ (NC)N/PF4NovelN10C
    C2370S1120REJ (I)N/PN/ANovel, C2370RkN13B
    R2516C1800REJ (NC)N/PS22X2N16B
    E2771K560REJ (C)N/PN/A3X + 4Xk3N25B
    P2809L980N/DN/PF4NovelN12B
    L2866P980N/DN/PF3NovelN10C
    S3007P7480 (E, fi)N/DN/PF2NovelN5C
    T3036I890GPS (HC)N/PN/ANovelN11B
    F3168L220PLAT (HC)N/PF12Novel, F3168delN10C
    A3171P270PLAT (C)N/PS2NovelN10C
    H3186Y830PLAT (HC)ND (0.24)N/A2X2N18B
    E3604K560TM (C)mN/PN/ANovelN10C
    G3651S560N/DN/PN/ANovelN7C
    R3753W1010PC-A (HC)N/PN/A3Xk, R3753QN18B
    R3753Q430PC-A (HC)N/PN/ANovel, R3753WN13B
    L3834R10222PC-B (HC)N/PS2NovelN12B
    L3908R10215TM (NC,DSS)N/PF2NovelN12B
    L4137P980GPB (DSS)N/PN/ANovelN10C
    L4139P9815GPB (DSS)N/PN/ANovelY6C
PKD2
    R322W1010PC-A (I)N/PF31XkN18B
    R325Q4326PC-A (HC)N/PF3NovelN13B
    S804N460ERL (HC)N/PN/ANovelN10C