Results for the protein: Q7Z6L0

Results for the Protein: Q7Z6L0

74738828

112476

PRRT2

NCBI, UniProt

PRRT2_HUMAN RecName: Full=Proline-rich transmembrane protein 2; AltName: Full=Dispanin subfamily B member 3; Short=DSPB3

Known Diseases associated with this Protein:
  CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
  CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (ICCA)
  CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS,
  EPISODIC KINESIGENIC DYSKINESIA 1
  EPISODIC KINESIGENIC DYSKINESIA 1 (EKD1)
  INCLUDED
  SEIZURES, BENIGN FAMILIAL INFANTILE 2 (BFIS2)
  SEIZURES, BENIGN FAMILIAL INFANTILE, 2, INCLUDED

13

7

6

1

13

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Default View: CD225 - pfam04505	Swiss-Prot Protein: Q7Z6L0 Identical to: NP_660282 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067012	Polymorphism	p.ALA214PRO	N/A
Swiss-Prot	VAR_067324	Disease	p.ALA287THR	Episodic kinesigenic dyskinesia 1 (EKD1)
Swiss-Prot	VAR_067326	Disease	p.ARG308CYS	Episodic kinesigenic dyskinesia 1 (EKD1)
Swiss-Prot	VAR_067014	Polymorphism	p.ARG245HIS	N/A
Swiss-Prot	VAR_067322	Disease	p.ARG266TRP	Episodic kinesigenic dyskinesia 1 (EKD1)
Swiss-Prot	VAR_067011	Polymorphism	p.ASP147HIS	N/A
Swiss-Prot	VAR_067013	Polymorphism	p.GLY237ARG	N/A
Swiss-Prot	VAR_067325	Disease	p.GLY305ARG	Episodic kinesigenic dyskinesia 1 (EKD1)
Swiss-Prot	VAR_068426	Disease	p.GLY323GLU	Seizures, benign familial infantile 2 (BFIS2)
dbSNP	rs79182085	Polymorphism	p.PRO138ALA	N/A
Swiss-Prot	VAR_067320	Polymorphism	p.PRO215ARG	N/A
Swiss-Prot	VAR_067321	Polymorphism	p.PRO216LEU	N/A
Swiss-Prot	VAR_067327	Disease	p.SER317ASN	Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA)
Swiss-Prot	VAR_067323	Disease	p.TRP281ARG	Episodic kinesigenic dyskinesia 1 (EKD1)
OMIM	614386.0007	Disease	p.ARG240TER	CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
OMIM	614386.0010	Disease	p.ARG266TRP	EPISODIC KINESIGENIC DYSKINESIA 1
OMIM	614386.0009	Disease	p.GLN163TER	EPISODIC KINESIGENIC DYSKINESIA 1\|\|CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS,\|\|INCLUDED
OMIM	614386.0012	Disease	p.GLN188TER	CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
OMIM	614386.0015	Disease	p.GLN250TER	EPISODIC KINESIGENIC DYSKINESIA 1\|\|SEIZURES, BENIGN FAMILIAL INFANTILE, 2, INCLUDED
OMIM	614386.0005	Disease	p.SER317ASN	CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS

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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