Results for the protein: Q02413

Results for the Protein: Q02413

292495005

1828

DSG1

NCBI, UniProt

DSG1_HUMAN RecName: Full=Desmoglein-1; AltName: Full=Cadherin family member 4; AltName: Full=Desmosomal glycoprotein 1; Short=DG1; Short=DGI; AltName: Full=Pemphigus foliaceus antigen; Flags: Precursor

Known Diseases associated with this Protein:
PALMOPLANTAR KERATODERMA I, STRIATE
PALMOPLANTAR KERATODERMA I, STRIATE OR DIFFUSE

3

12

3

9

3

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Default View: CA_like - cd00031 Cadherin - pfam00028 CA - smart00112 Cadherin_C - pfam01049	Swiss-Prot Protein: Q02413 Identical to: NP_001933 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	2.5e-25	273	485
Cadherin	pfam00028	8.6e-18	54	148
Cadherin	pfam00028	2.1e-28	162	260
Cadherin	pfam00028	7e-12	274	380
Cadherin_C	pfam01049	4.4e-05	636	765
CA	smart00112	6.5e-17	73	155
CA	smart00112	1.6e-19	182	267
CA	smart00112	1e-05	293	384

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs8091003	Polymorphism	p.ASN493THR	N/A
dbSNP	rs34302455	Polymorphism	p.ASP538ASN	N/A
Swiss-Prot	VAR_060249	Polymorphism	p.ASP828ASN	N/A
dbSNP	rs116081362	Polymorphism	p.ILE613MET	N/A
dbSNP	rs16961692	Polymorphism	p.LEU821GLN	N/A
dbSNP	rs61730306	Polymorphism	p.LYS537ARG	N/A
Swiss-Prot	VAR_055576	Polymorphism	p.MET665ILE	N/A
dbSNP	rs1426310	Polymorphism	p.MET11VAL	N/A
dbSNP	rs8091117	Polymorphism	p.THR498ASN	N/A
Swiss-Prot	VAR_055573	Polymorphism	p.THR395SER	N/A
dbSNP	rs3752095	Polymorphism	p.TYR841PHE	N/A
dbSNP	rs16961689	Polymorphism	p.TYR528SER	N/A
OMIM	125670.0007	Disease	p.ARG144TER	PALMOPLANTAR KERATODERMA I, STRIATE
OMIM	125670.0004	Disease	p.ARG26TER	PALMOPLANTAR KERATODERMA I, STRIATE OR DIFFUSE
OMIM	125670.0006	Disease	p.GLN201TER	PALMOPLANTAR KERATODERMA I, STRIATE

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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