Results for the protein: Q02487

Results for the Protein: Q02487

461968

1824

DSC2

NCBI, UniProt

DSC2_HUMAN RecName: Full=Desmocollin-2; AltName: Full=Cadherin family member 2; AltName: Full=Desmocollin-3; AltName: Full=Desmosomal glycoprotein II; AltName: Full=Desmosomal glycoprotein III; Flags: Precursor

Known Diseases associated with this Protein:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (ARVD11)

4

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0

2

8

Tips:

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Default View: Cadherin_pro - pfam08758 Cadherin - pfam00028 CA - smart00112 CA_like - cd00031 Cadherin_C - pfam01049	Swiss-Prot Protein: Q02487 Identical to: NP_077740 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	1.6e-33	475	670
Cadherin	pfam00028	5.9e-20	140	234
Cadherin	pfam00028	9.9e-25	248	346
Cadherin	pfam00028	7.4e-26	360	463
Cadherin	pfam00028	2e-21	476	568
Cadherin_C	pfam01049	5.2e-24	777	901
Cadherin_pro	pfam08758	1.9e-21	31	113
CA	smart00112	1.8e-13	159	241
CA	smart00112	2.1e-23	268	353
CA	smart00112	1.3e-13	379	470
CA	smart00112	3.6e-18	496	575

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065691	Polymorphism	p.ALA596VAL	N/A
Swiss-Prot	VAR_065687	Disease	p.ARG203CYS	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)
dbSNP	rs61731921	Polymorphism	p.ARG798GLN	N/A
Swiss-Prot	VAR_029480	Polymorphism	p.ASN11SER	N/A
Swiss-Prot	VAR_065692	Polymorphism	p.GLN638HIS	N/A
Swiss-Prot	VAR_065688	Disease	p.ILE231THR	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)
dbSNP	rs1893963	Polymorphism	p.ILE776VAL	N/A
Swiss-Prot	VAR_065690	Disease	p.THR340ALA	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)
Swiss-Prot	VAR_062391	Polymorphism	p.THR358ILE	N/A
Swiss-Prot	VAR_065689	Disease	p.THR275MET	Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)

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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