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Results for the Protein: Q7Z3S7
296434419

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
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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_VGCC_likecd014631.8e-99277460
vWA_interalpha_trypscd014613.6e-09288468
vWFAcd001982.8e-11290453
vWA_C3HC4_typecd014661.7e-06290457
VWApfam000922.9e-05291466
Cache_1pfam027431.5e-25487580
VWA_Npfam083991.9e-72148264
VWAsmart003273.2e-13289474

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035050Polymorphismp.ARG863HISN/A
dbSNPrs10735005 Polymorphismp.ILE327VALN/A
dbSNPrs76224631 Polymorphismp.ILE689VALN/A
Swiss-ProtVAR_035051Polymorphismp.THR869METN/A
OMIM608171.0001 Diseasep.TYR802TERRETINAL CONE DYSTROPHY 4



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