Results for the protein: Q01118

Results for the Protein: Q01118

296452902

6332

SCN7A

NCBI, UniProt

SCN7A_HUMAN RecName: Full=Sodium channel protein type 7 subunit alpha; AltName: Full=Putative voltage-gated sodium channel subunit alpha Nax; AltName: Full=Sodium channel protein cardiac and skeletal muscle subunit alpha; AltName: Full=Sodium channel protein type VII subunit alpha

			0 9 0 7 2

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Default View: Ion_trans - pfam00520 Na_trans_assoc - pfam06512	Swiss-Prot Protein: Q01118 Identical to: NP_002967 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	5.7e-46	539	728
Ion_trans	pfam00520	3.4e-57	970	1192
Ion_trans	pfam00520	2.1e-47	1285	1495
Na_trans_assoc	pfam06512	7.7e-39	742	944

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_055642	Polymorphism	p.ALA1313VAL	N/A
Swiss-Prot	VAR_055643	Polymorphism	p.ARG1516LYS	N/A
dbSNP	rs78403942	Polymorphism	p.ASN538SER	N/A
dbSNP	rs35344714	Polymorphism	p.ASP1657GLY	N/A
dbSNP	rs11888208	Polymorphism	p.ILE407VAL	N/A
dbSNP	rs6738031	Polymorphism	p.MET958ILE	N/A
dbSNP	rs34183637	Polymorphism	p.MET600LEU	N/A
dbSNP	rs7565062	Polymorphism	p.THR41ASN	N/A
dbSNP	rs3791251	Polymorphism	p.VAL1596LEU	N/A

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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