Results for the protein: Q99250

Results for the Protein: Q99250

25014053

6326

SCN2A

NCBI, UniProt

SCN2A_HUMAN RecName: Full=Sodium channel protein type 2 subunit alpha; AltName: Full=HBSC II; AltName: Full=Sodium channel protein brain II subunit alpha; AltName: Full=Sodium channel protein type II subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.2

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (EIEE11)
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MILD
  SEIZURES, BENIGN FAMILIAL INFANTILE 3 (BFIS3)
  SEIZURES, BENIGN FAMILIAL INFANTILE, 3

37

8

11

3

31

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Default View: Ion_trans - pfam00520 DUF3451 - pfam11933 Na_trans_assoc - pfam06512 IQ - smart00015	Swiss-Prot Protein: Q99250 Identical to: NP_001035232, NP_066287 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 ↕
Swiss-Prot	VAR_070000	Disease	p.ALA263THR	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_065178	Disease	p.ALA263VAL	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_065179	Polymorphism	p.ALA575VAL	N/A
Swiss-Prot	VAR_029739	Disease	p.ARG1319GLN	Seizures, benign familial infantile 3 (BFIS3)
Swiss-Prot	VAR_029734	Disease	p.ARG223GLN	Seizures, benign familial infantile 3 (BFIS3)
Swiss-Prot	VAR_029736	Polymorphism	p.ARG524GLN	N/A
Swiss-Prot	VAR_070001	Disease	p.ARG853GLN	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_070010	Disease	p.ARG1629LEU	Epileptic encephalopathy, early infantile, 11 (EIEE11)
dbSNP	rs17183814	Polymorphism	p.ARG19LYS	N/A
Swiss-Prot	VAR_029742	Polymorphism	p.ARG1902THR	N/A
Swiss-Prot	VAR_029733	Disease	p.ARG188TRP	Seizures, benign familial infantile 3 (BFIS3)
Swiss-Prot	VAR_069997	Disease	p.ASN212ASP	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_070002	Disease	p.ASN876THR	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_069996	Disease	p.GLU169GLY	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_065180	Disease	p.GLU1211LYS	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_070003	Disease	p.GLU999LYS	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_065181	Disease	p.ILE1473MET	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_029738	Disease	p.LEU1003ILE	Seizures, benign familial infantile 3 (BFIS3)
Swiss-Prot	VAR_029740	Disease	p.LEU1330PHE	Seizures, benign familial infantile 3 (BFIS3)
Swiss-Prot	VAR_029741	Disease	p.LEU1563VAL	Seizures, benign familial infantile 3 (BFIS3)
dbSNP	rs2228980	Polymorphism	p.LYS908ARG	N/A
Swiss-Prot	VAR_070008	Polymorphism	p.LYS1422GLU	N/A
Swiss-Prot	VAR_070007	Disease	p.MET1338THR	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_070004	Disease	p.MET1323VAL	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_065176	Disease	p.MET252VAL	Seizures, benign familial infantile 3 (BFIS3)
dbSNP	rs2228988	Polymorphism	p.PHE385TYR	N/A
Swiss-Prot	VAR_064331	Polymorphism	p.PHE328VAL	N/A
Swiss-Prot	VAR_070006	Disease	p.SER1336TYR	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_070009	Disease	p.THR1623ASN	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_069999	Disease	p.THR236SER	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_069998	Disease	p.VAL213ASP	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_029737	Disease	p.VAL892ILE	Seizures, benign familial infantile 3 (BFIS3)
Swiss-Prot	VAR_070005	Disease	p.VAL1326LEU	Epileptic encephalopathy, early infantile, 11 (EIEE11)
Swiss-Prot	VAR_065177	Disease	p.VAL261MET	Seizures, benign familial infantile 3 (BFIS3)
OMIM	182390.0011	Disease	p.ALA263VAL	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MILD
OMIM	182390.0006	Disease	p.ARG1319GLN	SEIZURES, BENIGN FAMILIAL INFANTILE, 3
OMIM	182390.0008	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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