Results for the protein: P15924

Results for the Protein: P15924

115502381

1832

DSP

NCBI, UniProt

DESP_HUMAN RecName: Full=Desmoplakin; Short=DP; AltName: Full=250/210 kDa paraneoplastic pemphigus antigen

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (ARVD8)
  CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
  EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
  KERATOSIS PALMOPLANTARIS STRIATA II
  SKIN FRAGILITY-WOOLLY HAIR SYNDROME
  SKIN FRAGILITY-WOOLLY HAIR SYNDROME (SFWHS)

17

8

11

3

11

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Default View: SPEC - cd00176 Plectin - pfam00681 PLEC - smart00250	Swiss-Prot Protein: P15924 Identical to: NP_004406 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Plectin	pfam00681	5.6e-17	2046	2090
Plectin	pfam00681	6e-18	2122	2166
Plectin	pfam00681	2.1e-20	2289	2333
Plectin	pfam00681	6.4e-20	2365	2409
Plectin	pfam00681	1.3e-10	2458	2500
Plectin	pfam00681	6.8e-22	2648	2692
Plectin	pfam00681	1.1e-15	2724	2768
PLEC	smart00250	5.5e-11	2046	2083
PLEC	smart00250	6.4e-11	2084	2121
PLEC	smart00250	1.7e-08	2122	2159
PLEC	smart00250	1.2e-09	2251	2288
PLEC	smart00250	1.1e-10	2289	2326
PLEC	smart00250	1.1e-08	2327	2364
PLEC	smart00250	4.4e-08	2365	2402
PLEC	smart00250	2.3e-09	2456	2493
PLEC	smart00250	3.8e-05	2507	2544
PLEC	smart00250	7.5e-08	2610	2647
PLEC	smart00250	1.3e-14	2648	2685
PLEC	smart00250	1.2e-11	2724	2761
PLEC	smart00250	1.2e-05	2762	2799

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065694	Polymorphism	p.ALA1505VAL	N/A
Swiss-Prot	VAR_065696	Polymorphism	p.ARG1537CYS	N/A
Swiss-Prot	VAR_015570	Disease	p.ARG2366CYS	Skin fragility-woolly hair syndrome (SFWHS)
dbSNP	rs6929069	Polymorphism	p.ARG1738GLN	N/A
Swiss-Prot	VAR_023816	Disease	p.ARG1775ILE	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)
Swiss-Prot	VAR_023814	Disease	p.ARG1255LYS	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)
dbSNP	rs28763966	Polymorphism	p.ASN1526LYS	N/A
Swiss-Prot	VAR_015569	Disease	p.ASN287LYS	Skin fragility-woolly hair syndrome (SFWHS)
Swiss-Prot	VAR_065697	Polymorphism	p.GLU1833VAL	N/A
Swiss-Prot	VAR_018158	Polymorphism	p.GLY2375ARG	N/A
Swiss-Prot	VAR_033862	Polymorphism	p.ILE305PHE	N/A
Swiss-Prot	VAR_065693	Disease	p.ILE445VAL	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)
Swiss-Prot	VAR_015402	Disease	p.SER299ARG	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)
dbSNP	rs2076299	Polymorphism	p.TYR1512CYS	N/A
OMIM	125647.0006	Disease	p.ARG2366CYS	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM	125647.0013	Disease	p.ARG2366HIS	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM	125647.0012	Disease	p.ARG2834HIS	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
OMIM	125647.0010	Disease	p.ARG1267TER	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
OMIM	125647.0008	Disease	p.ARG1934TER	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
OMIM	125647.0004	Disease	p.ASN287LYS	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM	125647.0005	Disease	p.CYS809TER	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM	125647.0001	Disease	p.GLN331TER	KERATOSIS PALMOPLANTARIS STRIATA II
OMIM	125647.0007	Disease	p.GLN664TER	SKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM	125647.0003	Disease	p.SER299ARG	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
OMIM	125647.0011	Disease	p.VAL30MET	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8

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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