Results for the protein: Q96MT3

Results for the Protein: Q96MT3

59800163

144165

PRICKLE1

NCBI, UniProt

PRIC1_HUMAN RecName: Full=Prickle-like protein 1; AltName: Full=REST/NRSF-interacting LIM domain protein 1; Flags: Precursor

Known Diseases associated with this Protein:
EPILEPSY, PROGRESSIVE MYOCLONIC 1B
EPILEPSY, PROGRESSIVE MYOCLONIC 1B (EPM1B)

6

11

3

3

11

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Default View: PET - pfam06297 LIM - smart00132 LIM - pfam00412	Swiss-Prot Protein: Q96MT3 Identical to: NP_694571, NP_001138353, NP_001138355, NP_001138354 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LIM	pfam00412	1.2e-11	191	247
PET	pfam06297	2.1e-69	13	118
LIM	smart00132	2e-07	125	167
LIM	smart00132	1e-09	190	227
LIM	smart00132	3.3e-06	250	290

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs79087668	Polymorphism	p.ALA124THR	N/A
Swiss-Prot	VAR_066855	Polymorphism	p.ARG682CYS	N/A
Swiss-Prot	VAR_054663	Disease	p.ARG104GLN	Epilepsy, progressive myoclonic 1B (EPM1B)
Swiss-Prot	VAR_065580	Disease	p.ARG144HIS	Epilepsy, progressive myoclonic 1B (EPM1B)
Swiss-Prot	VAR_066851	Polymorphism	p.ASN81HIS	N/A
Swiss-Prot	VAR_066857	Polymorphism	p.ASP771ASN	N/A
Swiss-Prot	VAR_066850	Polymorphism	p.ILE69THR	N/A
dbSNP	rs3827522	Polymorphism	p.PRO746SER	N/A
Swiss-Prot	VAR_066858	Polymorphism	p.SER799CYS	N/A
Swiss-Prot	VAR_066856	Polymorphism	p.SER739PHE	N/A
Swiss-Prot	VAR_066854	Polymorphism	p.THR275MET	N/A
Swiss-Prot	VAR_065581	Disease	p.TYR472HIS	Epilepsy, progressive myoclonic 1B (EPM1B)
dbSNP	rs34837068	Polymorphism	p.VAL125ALA	N/A
Swiss-Prot	VAR_066852	Polymorphism	p.VAL121ILE	N/A
OMIM	608500.0001	Disease	p.ARG104GLN	EPILEPSY, PROGRESSIVE MYOCLONIC 1B
OMIM	608500.0002	Disease	p.ARG144HIS	EPILEPSY, PROGRESSIVE MYOCLONIC 1B
OMIM	608500.0003	Disease	p.TYR472HIS	EPILEPSY, PROGRESSIVE MYOCLONIC 1B

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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