Results for the protein: O60437

Results for the Protein: O60437

317373534

5493

PPL

NCBI, UniProt

PEPL_HUMAN RecName: Full=Periplakin; AltName: Full=190 kDa paraneoplastic pemphigus antigen; AltName: Full=195 kDa cornified envelope precursor protein

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Default View: SPEC - cd00176 PLEC - smart00250	Swiss-Prot Protein: O60437 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PLEC	smart00250	9.9e-07	1651	1685
PLEC	smart00250	0.00025	1700	1735

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_055126	Polymorphism	p.ALA572SER	N/A
Swiss-Prot	VAR_055131	Polymorphism	p.ALA1007VAL	N/A
Swiss-Prot	VAR_055125	Polymorphism	p.ARG520GLN	N/A
Swiss-Prot	VAR_055127	Polymorphism	p.ARG589GLN	N/A
Swiss-Prot	VAR_055129	Polymorphism	p.ARG819SER	N/A
Swiss-Prot	VAR_055133	Polymorphism	p.GLN1573GLU	N/A
Swiss-Prot	VAR_055132	Polymorphism	p.GLU1199GLN	N/A
Swiss-Prot	VAR_055130	Polymorphism	p.GLU891GLN	N/A
Swiss-Prot	VAR_055134	Polymorphism	p.GLY1754ARG	N/A
Swiss-Prot	VAR_055128	Polymorphism	p.HIS631TYR	N/A

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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