Results for the protein: P14410

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG1501	COG1501	2.8e-95	98	901
GH31_glucosidase_KIA	cd06592	0.00066	339	674
GH31	cd06589	1.7e-107	343	686
GH31_xylosidase_XylS	cd06591	5e-13	343	681
GH31_glucosidase_Yih	cd06594	9.1e-05	343	676
GH31_transferase_Cts	cd06598	2e-16	343	693
GH31_MGAM-like	cd06600	1.7e-188	343	710
GH31_glycosidase_Aec	cd06599	3.5e-13	343	675
GH31_MGAM_SI_GAA	cd06602	6.5e-253	343	728
GH31_glucosidase_II_	cd06604	3.9e-79	343	710
GH31_lyase_GLase	cd06601	2.3e-09	343	693
GH31_GANC_GANAB_alph	cd06603	3.7e-48	343	710
GH31_xylosidase_YicI	cd06593	9.4e-17	343	695
GH31_transferase_Cts	cd06597	5.8e-07	343	686
GH31_CPE1046	cd06596	0.00096	479	700
Trefoil	cd00111	9.3e-15	930	978
COG1501	COG1501	3e-84	962	1791
GH31	cd06589	3e-55	1214	1580
GH31_MGAM-like	cd06600	1.7e-94	1214	1604
GH31_MGAM_SI_GAA	cd06602	1.5e-241	1214	1622
GH31_glucosidase_II_	cd06604	3.1e-64	1214	1604
GH31_GANC_GANAB_alph	cd06603	2.2e-32	1214	1604
Trefoil	pfam00088	1.1e-12	62	109
Glyco_hydro_31	pfam01055	1.5e-203	324	797
Glyco_hydro_31	pfam01055	4.8e-237	1195	1691
PD	smart00018	7e-18	61	112
PD	smart00018	3.5e-21	927	980

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025377	Disease	p.ARG1367GLY	Congenital sucrase-isomaltase deficiency (CSID)
Swiss-Prot	VAR_025376	Disease	p.CYS1229TYR	Congenital sucrase-isomaltase deficiency (CSID)
Swiss-Prot	VAR_025368	Disease	p.GLN117ARG	Congenital sucrase-isomaltase deficiency (CSID)
Swiss-Prot	VAR_007854	Disease	p.GLN1098PRO	Congenital sucrase-isomaltase deficiency (CSID)
Swiss-Prot	VAR_025375	Disease	p.GLY1073ASP	Congenital sucrase-isomaltase deficiency (CSID)
Swiss-Prot	VAR_025370	Disease	p.LEU341PRO	Congenital sucrase-isomaltase deficiency (CSID)
Swiss-Prot	VAR_025373	Disease	p.LEU620PRO	Congenital sucrase-isomaltase deficiency (CSID)
dbSNP	rs4855271	Polymorphism	p.MET1523ILE	N/A
Swiss-Prot	VAR_025379	Disease	p.PHE1745CYS	Congenital sucrase-isomaltase deficiency (CSID)
Swiss-Prot	VAR_025372	Disease	p.SER594PRO	Congenital sucrase-isomaltase deficiency (CSID)
dbSNP	rs9283633	Polymorphism	p.THR231ALA	N/A
Swiss-Prot	VAR_025374	Disease	p.THR694PRO	Congenital sucrase-isomaltase deficiency (CSID)
dbSNP	rs9917722	Polymorphism	p.THR1802SER	N/A
Swiss-Prot	VAR_025371	Disease	p.VAL577GLY	Congenital sucrase-isomaltase deficiency (CSID)
dbSNP	rs9290264	Polymorphism	p.VAL15PHE	N/A
OMIM	609845.0005	Disease	p.CYS1229TYR	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
OMIM	609845.0003	Disease	p.GLN117ARG	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
OMIM	609845.0001	Disease	p.GLN1098PRO	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
OMIM	609845.0008	Disease	p.GLY1073ASP	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
OMIM	609845.0002	Disease	p.LEU340PRO	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
OMIM	609845.0004	Disease	p.LEU620PRO	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
OMIM	609845.0006	Disease	p.PHE1745CYS	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
OMIM	609845.0007	Disease	p.VAL577GLY	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL

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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