Results for the protein: Q9P2D1

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CHROMO	cd00024	2e-12	797	862
CHROMO	cd00024	1.2e-11	879	935
DEXDc	cd00046	2.9e-17	987	1136
HELICc	cd00079	5.2e-27	1278	1412
Chromo	pfam00385	3.1e-13	800	862
Chromo	pfam00385	5.7e-16	882	935
SNF2_N	pfam00176	2.2e-101	971	1256
Helicase_C	pfam00271	3.7e-25	1324	1404
CHROMO	smart00298	2.7e-10	799	864
CHROMO	smart00298	4.4e-07	880	937
DEXDc	smart00487	1.5e-36	960	1165
HELICc	smart00490	6.4e-25	1320	1404
BRK	pfam07533	1.8e-25	2562	2611
BRK	smart00592	5.7e-25	2564	2613
BRK	pfam07533	8.6e-24	2640	2684
BRK	smart00592	1.2e-24	2642	2686

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068406	Polymorphism	p.ALA1972GLY	N/A
Swiss-Prot	VAR_068377	Polymorphism	p.ALA99PRO	N/A
Swiss-Prot	VAR_068418	Polymorphism	p.ALA2415SER	N/A
Swiss-Prot	VAR_068139	Polymorphism	p.ALA1950THR	N/A
Swiss-Prot	VAR_068146	Polymorphism	p.ALA2160THR	N/A
Swiss-Prot	VAR_068147	Polymorphism	p.ALA2225THR	N/A
Swiss-Prot	VAR_068414	Polymorphism	p.ALA2259THR	N/A
Swiss-Prot	VAR_068156	Polymorphism	p.ALA2733THR	N/A
Swiss-Prot	VAR_054625	Polymorphism	p.ALA2789THR	N/A
Swiss-Prot	VAR_068402	Polymorphism	p.ALA1672VAL	N/A
Swiss-Prot	VAR_068423	Polymorphism	p.ALA2780VAL	N/A
Swiss-Prot	VAR_068396	Polymorphism	p.ARG1317CYS	N/A
Swiss-Prot	VAR_068128	Polymorphism	p.ARG1345CYS	N/A
Swiss-Prot	VAR_068148	Polymorphism	p.ARG2319CYS	N/A
Swiss-Prot	VAR_068421	Polymorphism	p.ARG2491CYS	N/A
Swiss-Prot	VAR_068155	Polymorphism	p.ARG2702CYS	N/A
Swiss-Prot	VAR_068153	Polymorphism	p.ARG2653GLN	N/A
Swiss-Prot	VAR_068123	Polymorphism	p.ARG947GLN	N/A
Swiss-Prot	VAR_068150	Disease	p.ARG2418GLY	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068381	Polymorphism	p.ARG286GLY	N/A
Swiss-Prot	VAR_068398	Disease	p.ARG1345HIS	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068140	Polymorphism	p.ARG2065HIS	N/A
Swiss-Prot	VAR_068122	Polymorphism	p.ARG944HIS	N/A
Swiss-Prot	VAR_069035	Polymorphism	p.ARG2077LYS	N/A
Swiss-Prot	VAR_068121	Polymorphism	p.ARG938LYS	N/A
Swiss-Prot	VAR_068141	Disease	p.ARG2065SER	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_033250	Disease	p.ARG2319SER	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068151	Polymorphism	p.ARG2495SER	N/A
Swiss-Prot	VAR_068407	Polymorphism	p.ARG2062TRP	N/A
Swiss-Prot	VAR_068413	Polymorphism	p.ASN2118ASP	N/A
Swiss-Prot	VAR_068115	Polymorphism	p.ASP728ASN	N/A
Swiss-Prot	VAR_068136	Polymorphism	p.ASP1791GLU	N/A
Swiss-Prot	VAR_068404	Disease	p.ASP1812GLY	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068138	Polymorphism	p.ASP1866GLY	N/A
Swiss-Prot	VAR_068410	Polymorphism	p.ASP2097GLY	N/A
Swiss-Prot	VAR_068405	Disease	p.ASP1812HIS	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068393	Disease	p.CYS1101ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068394	Polymorphism	p.CYS1251ARG	N/A
Swiss-Prot	VAR_068397	Disease	p.CYS1318ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_033246	Disease	p.GLN1214ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068107	Polymorphism	p.GLN201ARG	N/A
Swiss-Prot	VAR_068380	Polymorphism	p.GLN254GLU	N/A
Swiss-Prot	VAR_068129	Disease	p.GLN1395HIS	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068384	Polymorphism	p.GLN596LYS	N/A
Swiss-Prot	VAR_068117	Disease	p.GLU871ASP	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068125	Polymorphism	p.GLU1203GLN	N/A
Swiss-Prot	VAR_068415	Disease	p.GLY2286ALA	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068149	Polymorphism	p.GLY2330ALA	N/A
Swiss-Prot	VAR_068144	Disease	p.GLY2108ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068389	Polymorphism	p.GLY975ARG	N/A
Swiss-Prot	VAR_068400	Polymorphism	p.GLY1617ASP	N/A
Swiss-Prot	VAR_068137	Disease	p.GLY1802ASP	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068143	Polymorphism	p.GLY2103ASP	N/A
Swiss-Prot	VAR_068420	Polymorphism	p.GLY2488ASP	N/A
Swiss-Prot	VAR_068133	Polymorphism	p.GLY1617SER	N/A
Swiss-Prot	VAR_068134	Disease	p.GLY1684SER	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068116	Polymorphism	p.GLY744SER	N/A
Swiss-Prot	VAR_068401	Polymorphism	p.GLY1619VAL	N/A
Swiss-Prot	VAR_068403	Disease	p.GLY1797VAL	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068111	Polymorphism	p.GLY522VAL	N/A
Swiss-Prot	VAR_068113	Polymorphism	p.GLY636VAL	N/A
Swiss-Prot	VAR_033249	Disease	p.HIS2096ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_054623	Disease	p.HIS55ARG	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)
Swiss-Prot	VAR_068383	Polymorphism	p.HIS524PRO	N/A
Swiss-Prot	VAR_068145	Disease	p.ILE2116ASN	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068391	Polymorphism	p.ILE1081SER	N/A
Swiss-Prot	VAR_021059	Disease	p.ILE1028VAL	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068422	Polymorphism	p.ILE2725VAL	N/A
Swiss-Prot	VAR_021060	Disease	p.LEU1257ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068135	Disease	p.LEU1739ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068417	Polymorphism	p.LEU2366ARG	N/A
Swiss-Prot	VAR_068160	Polymorphism	p.LEU2984PHE	N/A
Swiss-Prot	VAR_068395	Disease	p.LEU1292PRO	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_033247	Disease	p.LEU1294PRO	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068127	Polymorphism	p.LEU1322PRO	N/A
Swiss-Prot	VAR_069034	Polymorphism	p.LEU1745PRO	N/A
Swiss-Prot	VAR_033248	Disease	p.LEU1815PRO	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068408	Polymorphism	p.LEU2074PRO	N/A
Swiss-Prot	VAR_068124	Disease	p.LEU1020SER	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068157	Polymorphism	p.LEU2806VAL	N/A
Swiss-Prot	VAR_069032	Polymorphism	p.LEU511VAL	N/A
Swiss-Prot	VAR_068386	Polymorphism	p.LYS812ASN	N/A
Swiss-Prot	VAR_068131	Polymorphism	p.LYS1457GLN	N/A
Swiss-Prot	VAR_068419	Polymorphism	p.LYS2464GLU	N/A
Swiss-Prot	VAR_054627	Disease	p.LYS2948GLU	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)
Swiss-Prot	VAR_068416	Polymorphism	p.LYS2312THR	N/A
Swiss-Prot	VAR_068119	Polymorphism	p.LYS907THR	N/A
Swiss-Prot	VAR_068104	Polymorphism	p.MET41ILE	N/A
Swiss-Prot	VAR_068152	Polymorphism	p.MET2527LEU	N/A
Swiss-Prot	VAR_068374	Polymorphism	p.MET37LEU	N/A
Swiss-Prot	VAR_048731	Polymorphism	p.MET340VAL	N/A
Swiss-Prot	VAR_068132	Polymorphism	p.PHE1576CYS	N/A
Swiss-Prot	VAR_033251	Polymorphism	p.PHE2750LEU	N/A
Swiss-Prot	VAR_068109	Polymorphism	p.PRO369ALA	N/A
Swiss-Prot	VAR_068112	Polymorphism	p.PRO558ALA	N/A
Swiss-Prot	VAR_068105	Polymorphism	p.PRO86ARG	N/A
Swiss-Prot	VAR_068378	Polymorphism	p.PRO167LEU	N/A
Swiss-Prot	VAR_054626	Disease	p.PRO2880LEU	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)
Swiss-Prot	VAR_068399	Polymorphism	p.PRO1594SER	N/A
Swiss-Prot	VAR_068154	Polymorphism	p.PRO2683SER	N/A
Swiss-Prot	VAR_068382	Polymorphism	p.PRO439SER	N/A
Swiss-Prot	VAR_068158	Polymorphism	p.SER2857ALA	N/A
Swiss-Prot	VAR_069033	Polymorphism	p.SER527ALA	N/A
Swiss-Prot	VAR_068142	Polymorphism	p.SER2084GLY	N/A
Swiss-Prot	VAR_068385	Polymorphism	p.SER699GLY	N/A
Swiss-Prot	VAR_068110	Polymorphism	p.SER466LEU	N/A
Swiss-Prot	VAR_054624	Disease	p.SER834PHE	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)
Swiss-Prot	VAR_068106	Polymorphism	p.SER103THR	N/A
Swiss-Prot	VAR_068114	Polymorphism	p.SER699THR	N/A
Swiss-Prot	VAR_068118	Polymorphism	p.THR894ALA	N/A
Swiss-Prot	VAR_068376	Polymorphism	p.THR93ALA	N/A
Swiss-Prot	VAR_068388	Polymorphism	p.THR942ALA	N/A
Swiss-Prot	VAR_068130	Polymorphism	p.THR1416ARG	N/A
Swiss-Prot	VAR_068392	Disease	p.THR1082ASN	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068412	Polymorphism	p.THR2112MET	N/A
Swiss-Prot	VAR_068120	Polymorphism	p.THR917MET	N/A
Swiss-Prot	VAR_068390	Disease	p.TRP1031ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068409	Disease	p.TRP2091ARG	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068387	Disease	p.TRP840CYS	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_033245	Disease	p.TRP1031GLY	CHARGE syndrome (CHARGES)
Swiss-Prot	VAR_068375	Polymorphism	p.TYR72CYS	N/A
Swiss-Prot	VAR_068126	Polymorphism	p.VAL1208ASP	N/A
Swiss-Prot	VAR_068411	Polymorphism	p.VAL2102ILE	N/A
Swiss-Prot	VAR_068379	Polymorphism	p.VAL238LEU	N/A
Swiss-Prot	VAR_068108	Polymorphism	p.VAL238MET	N/A
Swiss-Prot	VAR_068159	Polymorphism	p.VAL2931MET	N/A
OMIM	608892.0006	Disease	p.ARG2319SER	CHARGE SYNDROME
OMIM	608892.0017	Disease	p.GLN1599TER	CHARGE SYNDROME
OMIM	608892.0007	Disease	p.GLU1271TER	CHARGE SYNDROME
OMIM	608892.0011	Disease	p.GLY2108ARG	CHARGE SYNDROME
OMIM	608892.0015	Disease	p.HIS55ARG	HYPOGONADOTROPIC HYPOGONADISM 5 WITH ANOSMIA
OMIM	608892.0001	Disease	p.ILE1028VAL	CHARGE SYNDROME
OMIM	608892.0002	Disease	p.LEU1257ARG	CHARGE SYNDROME
OMIM	608892.0012	Disease	p.SER834PHE	CHARGE SYNDROME\|\|HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA, INCLUDED
OMIM	608892.0005	Disease	p.TRP2332TER	CHARGE SYNDROME
OMIM	608892.0003	Disease	p.TYR1806TER	CHARGE SYNDROME

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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