Results for the protein: Q9Y5Y9

Results for the Protein: Q9Y5Y9

205371821

6336

SCN10A

NCBI, UniProt

SCNAA_HUMAN RecName: Full=Sodium channel protein type 10 subunit alpha; AltName: Full=Peripheral nerve sodium channel 3; Short=PN3; Short=hPN3; AltName: Full=Sodium channel protein type X subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.8

Known Diseases associated with this Protein:
EPISODIC PAIN SYNDROME, FAMILIAL, 2

2

8

2

5

3

Tips:

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Default View: Ion_trans - pfam00520 Na_trans_assoc - pfam06512	Swiss-Prot Protein: Q9Y5Y9 Identical to: NP_006505 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.9e-55	699	889
Ion_trans	pfam00520	6.2e-72	1188	1417
Ion_trans	pfam00520	6.5e-62	1510	1721
Na_trans_assoc	pfam06512	2.3e-111	904	1162

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064748	Polymorphism	p.ARG916TRP	N/A
Swiss-Prot	VAR_048696	Polymorphism	p.GLY590ARG	N/A
dbSNP	rs74717885	Polymorphism	p.ILE206MET	N/A
dbSNP	rs57326399	Polymorphism	p.ILE962VAL	N/A
dbSNP	rs12632942	Polymorphism	p.LEU1092PRO	N/A
Swiss-Prot	VAR_020608	Polymorphism	p.MET1713VAL	N/A
dbSNP	rs7630989	Polymorphism	p.SER509PRO	N/A
dbSNP	rs6795970	Polymorphism	p.VAL1073ALA	N/A
OMIM	604427.0002	Disease	p.ALA1304THR	EPISODIC PAIN SYNDROME, FAMILIAL, 2
OMIM	604427.0001	Disease	p.LEU554PRO	EPISODIC PAIN SYNDROME, FAMILIAL, 2

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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