Results for the protein: NP

Results for the Protein: NP_002968

4506813

6335

SCN9A

NCBI

sodium channel protein type 9 subunit alpha [Homo sapiens]

Known Diseases associated with this Protein:
  ERYTHERMALGIA, PRIMARY
  FEBRILE SEIZURES, FAMILIAL, 3B
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7
  INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
  NEUROPATHY, SMALL FIBER
  PAROXYSMAL EXTREME PAIN DISORDER

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Default View: Ion_trans - pfam00520 DUF3451 - pfam11933 Na_trans_assoc - pfam06512 IQ - smart00015	RefSeq Protein: NP_002968 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.3e-58	767	956
Ion_trans	pfam00520	6.6e-72	1217	1445
Ion_trans	pfam00520	8.6e-69	1538	1748
DUF3451	pfam11933	3.4e-99	463	684
Na_trans_assoc	pfam06512	2.8e-107	971	1191
IQ	smart00015	5.4e-05	1877	1899

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3750904	Polymorphism	p.ASP1908GLY	N/A
dbSNP	rs13402180	Polymorphism	p.GLU422ASP	N/A
dbSNP	rs12478318	Polymorphism	p.MET932LEU	N/A
dbSNP	rs58022607	Polymorphism	p.SER490ASN	N/A
dbSNP	rs6746030	Polymorphism	p.TRP1150ARG	N/A
dbSNP	rs4369876	Polymorphism	p.VAL991LEU	N/A
OMIM	603415.0008	Disease	p.ARG996CYS	PAROXYSMAL EXTREME PAIN DISORDER
OMIM	603415.0014	Disease	p.ARG277TER	INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
OMIM	603415.0018	Disease	p.ASN641TYR	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7
OMIM	603415.0024	Disease	p.ASP623ASN	NEUROPATHY, SMALL FIBER
OMIM	603415.0022	Disease	p.GLN10ARG	ERYTHERMALGIA, PRIMARY
OMIM	603415.0023	Disease	p.ILE720LYS	NEUROPATHY, SMALL FIBER
OMIM	603415.0012	Disease	p.ILE1461THR	PAROXYSMAL EXTREME PAIN DISORDER
OMIM	603415.0002	Disease	p.ILE848THR	ERYTHERMALGIA, PRIMARY
OMIM	603415.0020	Disease	p.ILE62VAL	FEBRILE SEIZURES, FAMILIAL, 3B
OMIM	603415.0001	Disease	p.LEU858HIS	ERYTHERMALGIA, PRIMARY
OMIM	603415.0016	Disease	p.LEU858PHE	ERYTHERMALGIA, PRIMARY
OMIM	603415.0019	Disease	p.LYS655ARG	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7
OMIM	603415.0025	Disease	p.MET932LEU	NEUROPATHY, SMALL FIBER
OMIM	603415.0017	Disease	p.PHE216SER	ERYTHERMALGIA, PRIMARY
OMIM	603415.0004	Disease	p.PHE1449VAL	ERYTHERMALGIA, PRIMARY
OMIM	603415.0021	Disease	p.PRO149GLN	FEBRILE SEIZURES, FAMILIAL, 3B
OMIM	603415.0005	Disease	p.SER459TER	INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
OMIM	603415.0003	Disease	p.SER241THR	ERYTHERMALGIA, PRIMARY
OMIM	603415.0013	Disease	p.THR1464ILE	PAROXYSMAL EXTREME PAIN DISORDER
OMIM	603415.0007	Disease	p.TRP897TER	INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
OMIM	603415.0015	Disease	p.TYR328TER	INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
OMIM	603415.0009	Disease	p.VAL1298ASP	PAROXYSMAL EXTREME PAIN DISORDER
OMIM	603415.0025	Disease	p.VAL991LEU	NEUROPATHY, SMALL FIBER
OMIM	603415.0010	Disease	p.VAL1298PHE	PAROXYSMAL EXTREME PAIN DISORDER
OMIM	603415.0011	Disease	p.VAL1299PHE	PAROXYSMAL EXTREME PAIN DISORDER

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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