Results for the protein: Q8NHX9

Results for the Protein: Q8NHX9

125991221

219931

TPCN2

NCBI, UniProt

TPC2_HUMAN RecName: Full=Two pore calcium channel protein 2; AltName: Full=Voltage-dependent calcium channel protein TPC2

Known Diseases associated with this Protein:
SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR

2

7

2

7

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Ion_trans - pfam00520	Swiss-Prot Protein: Q8NHX9 Identical to: NP_620714 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	2.1e-20	471	693

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61746574	Polymorphism	p.GLY387ASP	N/A
dbSNP	rs3829241	Polymorphism	p.GLY734GLU	N/A
dbSNP	rs2376558	Polymorphism	p.LEU564PRO	N/A
dbSNP	rs3750965	Polymorphism	p.LYS376ARG	N/A
dbSNP	rs35264875	Polymorphism	p.MET484LEU	N/A
dbSNP	rs78034812	Polymorphism	p.SER681LEU	N/A
dbSNP	rs72928978	Polymorphism	p.VAL219ILE	N/A
OMIM	612163.0002	Disease	p.GLY734GLU	SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
OMIM	612163.0001	Disease	p.MET484LEU	SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258