Results for the protein: Q14126

Results for the Protein: Q14126

148876773

1829

DSG2

NCBI, UniProt

DSG2_HUMAN RecName: Full=Desmoglein-2; AltName: Full=Cadherin family member 5; AltName: Full=HDGC; Flags: Precursor

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (ARVD10)
  CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO, INCLUDED

13

10

8

5

10

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Default View: Cadherin - pfam00028 CA - smart00112 CA_like - cd00031	Swiss-Prot Protein: Q14126 Identical to: NP_001934 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	4.7e-26	392	594
Cadherin	pfam00028	4.2e-05	54	150
Cadherin	pfam00028	4.7e-22	164	263
Cadherin	pfam00028	3.2e-14	277	378
Cadherin	pfam00028	1.3e-09	396	490
CA	smart00112	1.8e-09	75	157
CA	smart00112	3.6e-26	184	270
CA	smart00112	6.4e-07	296	387
CA	smart00112	1.4e-17	416	497

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_029365	Disease	p.ARG46GLN	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
Swiss-Prot	VAR_029366	Disease	p.ARG49HIS	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
dbSNP	rs2278792	Polymorphism	p.ARG773LYS	N/A
Swiss-Prot	VAR_029367	Disease	p.CYS507TYR	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
dbSNP	rs79241126	Polymorphism	p.GLU713LYS	N/A
Swiss-Prot	VAR_029368	Disease	p.GLY812CYS	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
dbSNP	rs2230234	Polymorphism	p.ILE293VAL	N/A
Swiss-Prot	VAR_048512	Polymorphism	p.MET863LEU	N/A
Swiss-Prot	VAR_065686	Disease	p.THR335ALA	Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)
Swiss-Prot	VAR_048513	Polymorphism	p.THR903ILE	N/A
dbSNP	rs2230232	Polymorphism	p.TYR89CYS	N/A
Swiss-Prot	VAR_062388	Polymorphism	p.VAL158GLY	N/A
Swiss-Prot	VAR_062390	Polymorphism	p.VAL920GLY	N/A
dbSNP	rs2230235	Polymorphism	p.VAL515ILE	N/A
Swiss-Prot	VAR_062387	Polymorphism	p.VAL56MET	N/A
OMIM	125671.0003	Disease	p.ARG45GLN	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
OMIM	125671.0001	Disease	p.ARG48HIS	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
OMIM	125671.0006	Disease	p.ASN266SER	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
OMIM	125671.0004	Disease	p.CYS506TYR	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
OMIM	125671.0007	Disease	p.GLU331LYS	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
OMIM	125671.0005	Disease	p.GLY811CYS	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
OMIM	125671.0002	Disease	p.TRP305TER	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
OMIM	125671.0009	Disease	p.VAL55MET	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10\|\|CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO, INCLUDED

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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