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Results for the Protein: Q14643
519668682

ITPR1_HUMAN RecName: Full=Inositol 1,4,5-trisphosphate receptor type 1; AltName: Full=IP3 receptor isoform 1; Short=IP3R 1; Short=InsP3R1; AltName: Full=Type 1 inositol 1,4,5-trisphosphate receptor; Short=Type 1 InsP3 receptor

Known Diseases associated with this Protein:
  SPINOCEREBELLAR ATAXIA 15 (SCA15)
  SPINOCEREBELLAR ATAXIA 29 (SCA29)
3
2
0
0
5
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Default View:

Ins145_P3_rec - pfam08709
MIR - smart00472
MIR - pfam02815
RYDR_ITPR - pfam01365
RIH_assoc - pfam08454
Ion_trans - pfam00520


Swiss-Prot Protein: Q14643
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RYDR_ITPRpfam013653.2e-100472677
RYDR_ITPRpfam013652.9e-8211851364
Ion_transpfam005203.3e-1523712597
Ins145_P3_recpfam087093.7e-1504225
MIRsmart004721.4e-07112166
MIRsmart004720.0007173223
MIRsmart004729.9e-09231287
MIRsmart004721.1e-40294403
RIH_assocpfam084544.1e-5719642083

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069567Diseasep.ASN602ASPSpinocerebellar ataxia 29 (SCA29)
Swiss-ProtVAR_037006Polymorphismp.ILE1430VALN/A
Swiss-ProtVAR_037005Polymorphismp.MET769VALN/A
Swiss-ProtVAR_069568Diseasep.PRO1059LEUSpinocerebellar ataxia 15 (SCA15)
Swiss-ProtVAR_069569Diseasep.VAL1562METSpinocerebellar ataxia 29 (SCA29)



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