********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** WARNING: Incorrect mutation V1453I WARNING: Incorrect mutation F1454L WARNING: Incorrect mutation I1457V WARNING: Incorrect mutation I1457F WARNING: Incorrect mutation M1461V WARNING: Incorrect mutation F1465L WARNING: Incorrect mutation L1470V WARNING: Incorrect mutation F1471L WARNING: Incorrect mutation A1473P WARNING: Incorrect mutation A1473G WARNING: Incorrect mutation I1475M WARNING: Incorrect mutation N1478H WARNING: Incorrect mutation F1479S WARNING: Incorrect mutation T1483S WARNING: Incorrect mutation S1487A WARNING: Incorrect mutation A1502T WARNING: Incorrect mutation E1503D WARNING: Incorrect mutation Y1504C WARNING: Incorrect mutation P1506A WARNING: Incorrect mutation P1506S WARNING: Incorrect mutation R1511C WARNING: Incorrect mutation R1511H WARNING: Incorrect mutation K1513Q WARNING: Incorrect mutation K1513N WARNING: Incorrect mutation T1519I WARNING: Incorrect mutation L1520I WARNING: Incorrect mutation L1520V WARNING: Incorrect mutation R1522W WARNING: Incorrect mutation R1522Q WARNING: Incorrect mutation R1523W WARNING: Incorrect mutation Q1525P WARNING: Incorrect mutation Q1525H WARNING: Incorrect mutation P1526L WARNING: Incorrect mutation K1532Q WARNING: Incorrect mutation R1537H WARNING: Incorrect mutation V1538M WARNING: Incorrect mutation A1539T WARNING: Incorrect mutation L1543P WARNING: Incorrect mutation S1545P WARNING: Incorrect mutation M1546T WARNING: Incorrect mutation N1551K WARNING: Incorrect mutation G1554R WARNING: Incorrect mutation T1555I WARNING: Incorrect mutation A1560G WARNING: Incorrect mutation A1560V WARNING: Incorrect mutation L1562M WARNING: Incorrect mutation T1568M WARNING: Incorrect mutation A1569T WARNING: Incorrect mutation K1573E WARNING: Incorrect mutation L1578V WARNING: Incorrect mutation L1585P WARNING: Incorrect mutation R1586Q WARNING: Incorrect mutation K1590N WARNING: Incorrect mutation K1591N WARNING: Incorrect mutation R1595W WARNING: Incorrect mutation R1595Q WARNING: Incorrect mutation R1595L WARNING: Incorrect mutation S1597T WARNING: Incorrect mutation M1598T WARNING: Incorrect mutation D1602N WARNING: Incorrect mutation P1606S WARNING: Incorrect mutation P1607A WARNING: Incorrect mutation P1607S WARNING: Incorrect mutation P1607L WARNING: Incorrect mutation V1613I WARNING: Incorrect mutation V1613F WARNING: Incorrect mutation V1615I WARNING: Incorrect mutation K1617N WARNING: Incorrect mutation F1618L WARNING: Incorrect mutation A1620T WARNING: Incorrect mutation T1621M WARNING: Incorrect mutation Y1627N WARNING: Incorrect mutation Y1627S WARNING: Incorrect mutation K1635T WARNING: Incorrect mutation E1636K WARNING: Incorrect mutation Q1637R WARNING: Incorrect mutation V1640M WARNING: Incorrect mutation G1641S WARNING: Incorrect mutation G1641R WARNING: Incorrect mutation P1643S WARNING: Incorrect mutation S1644F WARNING: Incorrect mutation N1647K WARNING: Incorrect mutation A1648T WARNING: Incorrect mutation A1648V WARNING: Incorrect mutation S1650C WARNING: Incorrect mutation L1655F WARNING: Incorrect mutation R1656S WARNING: Incorrect mutation R1656G WARNING: Incorrect mutation R1656C WARNING: Incorrect mutation R1656H WARNING: Incorrect mutation T1657K WARNING: Incorrect mutation L1658R WARNING: Incorrect mutation H1659P WARNING: Incorrect mutation I1661L WARNING: Incorrect mutation I1661V WARNING: Incorrect mutation I1661T WARNING: Incorrect mutation G1662R WARNING: Incorrect mutation G1662R WARNING: Incorrect mutation G1662W WARNING: Incorrect mutation P1663T WARNING: Incorrect mutation R1666Q WARNING: Incorrect mutation R1667W WARNING: Incorrect mutation R1667Q WARNING: Incorrect mutation I1669V WARNING: Incorrect mutation S1670Y WARNING: Incorrect mutation G1671A WARNING: Incorrect mutation D1672E WARNING: Incorrect mutation L1673V WARNING: Incorrect mutation A1675T WARNING: Incorrect mutation E1676D WARNING: Incorrect mutation E1678G WARNING: Incorrect mutation D1680N WARNING: Incorrect mutation D1680G WARNING: Incorrect mutation A1682T WARNING: Incorrect mutation M1683V WARNING: Incorrect mutation M1683T WARNING: Incorrect mutation M1683R WARNING: Incorrect mutation E1685K WARNING: Incorrect mutation A1686P WARNING: Incorrect mutation V1687M WARNING: Incorrect mutation V1687E WARNING: Incorrect mutation A1689T WARNING: Incorrect mutation D1693N WARNING: Incorrect mutation D1693E WARNING: Incorrect mutation I1695T WARNING: Incorrect mutation A1699T WARNING: Incorrect mutation G1700S WARNING: Incorrect mutation G1700R WARNING: Incorrect mutation G1701S WARNING: Incorrect mutation F1703L WARNING: Incorrect mutation G1704S WARNING: Incorrect mutation G1704D WARNING: Incorrect mutation N1705S WARNING: Incorrect mutation N1705K WARNING: Incorrect mutation H1706D WARNING: Incorrect mutation H1706Y WARNING: Incorrect mutation H1706Q WARNING: Incorrect mutation V1707I WARNING: Incorrect mutation V1707A WARNING: Incorrect mutation Y1709C WARNING: Incorrect mutation Y1710N WARNING: Incorrect mutation Y1710D WARNING: Incorrect mutation Y1710C WARNING: Incorrect mutation D1713N WARNING: Incorrect mutation D1713G WARNING: Incorrect mutation D1713E WARNING: Incorrect mutation G1714S WARNING: Incorrect mutation G1714C WARNING: Incorrect mutation G1714V WARNING: Incorrect mutation A1717T WARNING: Incorrect mutation A1717S WARNING: Incorrect mutation A1717G WARNING: Incorrect mutation A1717V WARNING: Incorrect mutation P1719T WARNING: Incorrect mutation Q1720E WARNING: Incorrect mutation Q1720H WARNING: Incorrect mutation Q1720H WARNING: Incorrect mutation T1721S WARNING: Incorrect mutation F1722V WARNING: Incorrect mutation T1723P WARNING: Incorrect mutation T1723S WARNING: Incorrect mutation T1724S WARNING: Incorrect mutation Q1725P WARNING: Incorrect mutation Q1725L WARNING: Incorrect mutation R1726H WARNING: Incorrect mutation P1727S WARNING: Incorrect mutation P1727L WARNING: Incorrect mutation H1729R WARNING: Incorrect mutation H1729Q WARNING: Incorrect mutation I1730V WARNING: Incorrect mutation N1731D WARNING: Incorrect mutation A1733V WARNING: Incorrect mutation G1738D WARNING: Incorrect mutation D1739N WARNING: Incorrect mutation T1740P WARNING: Incorrect mutation E1741K WARNING: Incorrect mutation S1742L WARNING: Incorrect mutation S1744P WARNING: Incorrect mutation S1744A WARNING: Incorrect mutation H1745R WARNING: Incorrect mutation H1745Q WARNING: Incorrect mutation H1745Q WARNING: Incorrect mutation E1746K WARNING: Incorrect mutation V1749M WARNING: Incorrect mutation S1751C WARNING: Incorrect mutation T1752P WARNING: Incorrect mutation T1752A WARNING: Incorrect mutation T1752I WARNING: Incorrect mutation T1754P WARNING: Incorrect mutation P1755S Sequence File: CAC1C_HUMAN.seq Mutation Prediction RI Probability Method D1553N Disease 6 0.815 PhD-SNP: F[D]=93% F[N]=0% Nali=655 D1553N Disease 9 0.967 PANTHER: F[D]=95% F[N]=0% D1553N Disease 9 0.967 SNPs&GO I1572F Disease 3 0.670 PhD-SNP: F[I]=37% F[F]=1% Nali=610 I1572F Disease 7 0.834 PANTHER: F[I]=73% F[F]=1% I1572F Disease 10 0.986 SNPs&GO A1587E Disease 6 0.800 PhD-SNP: F[A]=78% F[E]=1% Nali=401 A1587E Disease 10 0.982 PANTHER: F[A]=92% F[E]=0% A1587E Disease 9 0.970 SNPs&GO A1587P Disease 6 0.824 PhD-SNP: F[A]=78% F[P]=0% Nali=401 A1587P Disease 9 0.972 PANTHER: F[A]=92% F[P]=0% A1587P Disease 9 0.962 SNPs&GO A1587V Disease 4 0.709 PhD-SNP: F[A]=78% F[V]=3% Nali=401 A1587V Disease 9 0.966 PANTHER: F[A]=92% F[V]=0% A1587V Disease 9 0.963 SNPs&GO R1634H Disease 5 0.745 PhD-SNP: F[R]=67% F[H]=0% Nali=365 R1634H Disease 8 0.920 PANTHER: F[R]=85% F[H]=0% R1634H Disease 9 0.970 SNPs&GO L1649P Disease 5 0.774 PhD-SNP: F[L]=71% F[P]=2% Nali=322 L1649P Disease 9 0.945 PANTHER: F[L]=81% F[P]=0% L1649P Disease 9 0.974 SNPs&GO K1681E Disease 2 0.610 PhD-SNP: F[K]=47% F[E]=3% Nali=294 K1681E Neutral 2 0.389 PANTHER: F[K]=56% F[E]=4% K1681E Disease 9 0.965 SNPs&GO R1715Q Disease 3 0.648 PhD-SNP: F[R]=80% F[Q]=4% Nali=162 R1715Q Neutral 1 0.459 PANTHER: F[R]=61% F[Q]=3% R1715Q Disease 9 0.958 SNPs&GO R1715W Disease 7 0.842 PhD-SNP: F[R]=80% F[W]=0% Nali=162 R1715W Disease 7 0.864 PANTHER: F[R]=61% F[W]=0% R1715W Disease 10 0.980 SNPs&GO Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variation Disease: Disease associated variation RI: Reliability Index Probability: Disease probability (if >0.5 mutation is predicted Disease) Method: SVM type and data PANTHER: Output of the PANTHER algorithm PhD-SNP: SVM input is the sequence and profile at the mutated position SNPs&GO: SVM input is all the input in PhD-SNP, PANTHER and GO term features F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site ********************************************************************************************** ** ** ** Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. (2009). Functional ** ** annotations improve the predictive score of human disease-related mutations in ** ** proteins. Human Mutation. 30:1237-1244. ** ** ** ** Capriotti E, Altman RB. (2011). Improving the prediction of disease-related vari- ** ** ants using protein three-dimensional structure. BMC Bioinformatics. 12 (Sup.4) S3. ** ** ** **********************************************************************************************