Results for the protein: NP

Results for the Protein: NP_001035233

93141214

6326

SCN2A

NCBI

sodium channel protein type 2 subunit alpha isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MILD
  SEIZURES, BENIGN FAMILIAL INFANTILE, 3

12

3

12

3

0

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Default View: Ion_trans - pfam00520 DUF3451 - pfam11933 Na_trans_assoc - pfam06512 IQ - smart00015	RefSeq Protein: NP_001035233 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	7.4e-61	793	982
Ion_trans	pfam00520	4.9e-73	1244	1472
Ion_trans	pfam00520	1.5e-68	1565	1775
DUF3451	pfam11933	2.4e-97	488	710
Na_trans_assoc	pfam06512	7.1e-124	997	1218
IQ	smart00015	0.00017	1904	1926

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17183814	Polymorphism	p.ARG19LYS	N/A
dbSNP	rs2228980	Polymorphism	p.LYS908ARG	N/A
dbSNP	rs2228988	Polymorphism	p.PHE385TYR	N/A
OMIM	182390.0011	Disease	p.ALA263VAL	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MILD
OMIM	182390.0006	Disease	p.ARG1319GLN	SEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM	182390.0005	Disease	p.ARG223GLN	SEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM	182390.0008	Disease	p.ARG102TER	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
OMIM	182390.0001	Disease	p.ARG188TRP	SEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM	182390.0009	Disease	p.GLU1211LYS	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
OMIM	182390.0010	Disease	p.ILE1473MET	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
OMIM	182390.0007	Disease	p.LEU1003ILE	SEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM	182390.0002	Disease	p.LEU1330PHE	SEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM	182390.0003	Disease	p.LEU1563VAL	SEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM	182390.0012	Disease	p.MET252VAL	SEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM	182390.0004	Disease	p.VAL892ILE	SEIZURES, BENIGN FAMILIAL INFANTILE, 3

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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