Results for the protein: Q7Z3S7

Results for the Protein: Q7Z3S7

296434419

93589

CACNA2D4

NCBI, UniProt

CA2D4_HUMAN RecName: Full=Voltage-dependent calcium channel subunit alpha-2/delta-4; AltName: Full=Voltage-gated calcium channel subunit alpha-2/delta-4; Contains: RecName: Full=Voltage-dependent calcium channel subunit alpha-2-4; Contains: RecName: Full=Voltage-dependent calcium channel subunit delta-4; Flags: Precursor

Known Diseases associated with this Protein:
RETINAL CONE DYSTROPHY 4

1

4

1

2

2

Tips:

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

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Default View: VWA_N - pfam08399 vWA_VGCC_like - cd01463 vWA_interalpha_tryps - cd01461 VWA - smart00327 vWA_C3HC4_type - cd01466 vWFA - cd00198 VWA - pfam00092 Cache_1 - pfam02743	Swiss-Prot Protein: Q7Z3S7 Identical to: NP_758952 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWA_interalpha_tryps	cd01461	3.6e-09	288	468
vWFA	cd00198	2.8e-11	290	453
vWA_C3HC4_type	cd01466	1.7e-06	290	457
VWA	pfam00092	2.9e-05	291	466
Cache_1	pfam02743	1.5e-25	487	580
VWA_N	pfam08399	1.9e-72	148	264
VWA	smart00327	3.2e-13	289	474

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_035050	Polymorphism	p.ARG863HIS	N/A
dbSNP	rs10735005	Polymorphism	p.ILE327VAL	N/A
dbSNP	rs76224631	Polymorphism	p.ILE689VAL	N/A
Swiss-Prot	VAR_035051	Polymorphism	p.THR869MET	N/A
OMIM	608171.0001	Disease	p.TYR802TER	RETINAL CONE DYSTROPHY 4

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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