Results for the protein: Q6VVB1

Results for the Protein: Q6VVB1

50400890

378884

NHLRC1

NCBI, UniProt

NHLC1_HUMAN RecName: Full=E3 ubiquitin-protein ligase NHLRC1; AltName: Full=Malin; AltName: Full=NHL repeat-containing protein 1

Known Diseases associated with this Protein:
EPILEPSY, PROGRESSIVE MYOCLONIC 2 (EPM2)
EPILEPSY, PROGRESSIVE MYOCLONIC 2B

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Default View: RING - smart00184	Swiss-Prot Protein: Q6VVB1 Identical to: NP_940988 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_046397	Disease	p.ARG253LYS	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046395	Disease	p.ASP233ALA	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046401	Disease	p.ASP308ALA	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_019487	Disease	p.ASP146ASN	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046396	Disease	p.ASP245ASN	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046392	Disease	p.CYS160ARG	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_019482	Disease	p.CYS26SER	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046389	Disease	p.CYS68TYR	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_019488	Disease	p.GLN302PRO	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046388	Disease	p.GLU67GLN	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046393	Disease	p.ILE198ASN	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046391	Disease	p.ILE153MET	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046390	Disease	p.LEU126PRO	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046399	Disease	p.LEU279PRO	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_019485	Disease	p.LEU87PRO	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_019483	Disease	p.PHE33SER	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_019484	Disease	p.PRO69ALA	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046398	Disease	p.PRO264HIS	Epilepsy, progressive myoclonic 2 (EPM2)
dbSNP	rs10949483	Polymorphism	p.PRO111LEU	N/A
Swiss-Prot	VAR_046387	Disease	p.SER22ARG	Epilepsy, progressive myoclonic 2 (EPM2)
Swiss-Prot	VAR_046394	Disease	p.TRP219ARG	Epilepsy, progressive myoclonic 2 (EPM2)
OMIM	608072.0005	Disease	p.ARG265TER	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
OMIM	608072.0007	Disease	p.ASP308ALA	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
OMIM	608072.0001	Disease	p.CYS26SER	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
OMIM	608072.0006	Disease	p.ILE198ASN	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
OMIM	608072.0002	Disease	p.PRO69ALA	EPILEPSY, PROGRESSIVE MYOCLONIC 2B

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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