Results for the protein: Q9UI33

Results for the Protein: Q9UI33

124053649

11280

SCN11A

NCBI, UniProt

SCNBA_HUMAN RecName: Full=Sodium channel protein type 11 subunit alpha; AltName: Full=Peripheral nerve sodium channel 5; Short=PN5; AltName: Full=Sensory neuron sodium channel 2; AltName: Full=Sodium channel protein type XI subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.9; AltName: Full=hNaN

			0 6 0 3 3

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Default View: Ion_trans - pfam00520 Na_trans_assoc - pfam06512	Swiss-Prot Protein: Q9UI33 Identical to: NP_054858 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	1.2e-52	611	810
Ion_trans	pfam00520	1.7e-71	1092	1307
Ion_trans	pfam00520	6.1e-61	1400	1603
Na_trans_assoc	pfam06512	7.6e-88	826	1066

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs78812474	Polymorphism	p.ARG86GLY	N/A
Swiss-Prot	VAR_030002	Polymorphism	p.GLY481GLU	N/A
Swiss-Prot	VAR_030003	Polymorphism	p.MET777ARG	N/A
dbSNP	rs72869687	Polymorphism	p.THR1609ILE	N/A
Swiss-Prot	VAR_030004	Polymorphism	p.TYR1198HIS	N/A
dbSNP	rs33985936	Polymorphism	p.VAL909ILE	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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