Results for the protein: Q9NQA5

Results for the Protein: Q9NQA5

62901471

56302

TRPV5

NCBI, UniProt

TRPV5_HUMAN RecName: Full=Transient receptor potential cation channel subfamily V member 5; Short=TrpV5; AltName: Full=Calcium transport protein 2; Short=CaT2; AltName: Full=Epithelial calcium channel 1; Short=ECaC; Short=ECaC1; AltName: Full=Osm-9-like TRP channel 3; Short=OTRPC3

			0 4 0 2 2

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Default View: Arp - COG0666 ANK - cd00204 Ank - pfam00023 ANK - smart00248 Ion_trans - pfam00520	Swiss-Prot Protein: Q9NQA5 Identical to: NP_062815 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANK	cd00204	5.7e-19	73	220
Ank	pfam00023	1e-05	116	148
Ank	pfam00023	3e-07	162	194
Ion_trans	pfam00520	2.2e-12	391	578
ANK	smart00248	8.1e-05	116	145
ANK	smart00248	8.7e-05	162	191

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_022249	Polymorphism	p.ALA563THR	N/A
dbSNP	rs4252372	Polymorphism	p.ALA8VAL	N/A
dbSNP	rs4236480	Polymorphism	p.ARG154HIS	N/A
Swiss-Prot	VAR_022250	Polymorphism	p.LEU712PHE	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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