Results for the protein: NP

Results for the Protein: NP_002213

269954692

3708

ITPR1

NCBI

inositol 1,4,5-trisphosphate receptor type 1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
SPINOCEREBELLAR ATAXIA 15
SPINOCEREBELLAR ATAXIA 29

3

1

3

1

0

Tips:

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

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

Default View: Ins145_P3_rec - pfam08709 MIR - smart00472 MIR - pfam02815 RYDR_ITPR - pfam01365 RIH_assoc - pfam08454 Ion_trans - pfam00520	RefSeq Protein: NP_002213 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RYDR_ITPR	pfam01365	3.2e-100	457	662
RYDR_ITPR	pfam01365	2.9e-82	1161	1340
Ion_trans	pfam00520	3.3e-15	2308	2534
Ins145_P3_rec	pfam08709	3.7e-150	4	225
MIR	smart00472	1.4e-07	112	166
MIR	smart00472	0.0007	173	223
MIR	smart00472	9.9e-09	231	287
MIR	smart00472	1.5e-35	294	388
RIH_assoc	pfam08454	4.1e-57	1901	2020

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs201072463	Polymorphism	p.ASN1146LYS	N/A
OMIM	147265.0004	Disease	p.ASN602ASP	SPINOCEREBELLAR ATAXIA 29
OMIM	147265.0002	Disease	p.PRO1050LEU	SPINOCEREBELLAR ATAXIA 15
OMIM	147265.0003	Disease	p.VAL1544MET	SPINOCEREBELLAR ATAXIA 29

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