Results for the protein: Q702N8

Results for the Protein: Q702N8

74712579

165904

XIRP1

NCBI, UniProt

XIRP1_HUMAN RecName: Full=Xin actin-binding repeat-containing protein 1; AltName: Full=Cardiomyopathy-associated protein 1

			0 19 0 13 6

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Default View: Xin - pfam08043	Swiss-Prot Protein: Q702N8 Identical to: NP_919269 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Xin	pfam08043	3.4e-06	151	166
Xin	pfam08043	1.7e-05	186	201
Xin	pfam08043	1.1e-05	302	317
Xin	pfam08043	1e-05	376	391
Xin	pfam08043	0.00019	436	451
Xin	pfam08043	2.5e-07	507	522
Xin	pfam08043	4.3e-06	545	560
Xin	pfam08043	1.2e-05	589	604

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35795536	Polymorphism	p.ALA1061VAL	N/A
dbSNP	rs34810344	Polymorphism	p.ALA1608VAL	N/A
Swiss-Prot	VAR_061722	Polymorphism	p.ARG695CYS	N/A
Swiss-Prot	VAR_038441	Polymorphism	p.ARG551GLN	N/A
Swiss-Prot	VAR_038447	Polymorphism	p.ARG1634LYS	N/A
dbSNP	rs9823779	Polymorphism	p.ARG776TRP	N/A
Swiss-Prot	VAR_038439	Polymorphism	p.ASP3ASN	N/A
dbSNP	rs6805248	Polymorphism	p.GLN346ARG	N/A
dbSNP	rs34053674	Polymorphism	p.GLN1707HIS	N/A
dbSNP	rs3732383	Polymorphism	p.GLY1604ARG	N/A
dbSNP	rs75731397	Polymorphism	p.GLY1443SER	N/A
dbSNP	rs11711871	Polymorphism	p.HIS965PRO	N/A
dbSNP	rs9827576	Polymorphism	p.ILE1724VAL	N/A
Swiss-Prot	VAR_038442	Polymorphism	p.LEU929HIS	N/A
Swiss-Prot	VAR_038444	Polymorphism	p.PRO1046ALA	N/A
dbSNP	rs61736127	Polymorphism	p.SER1354LEU	N/A
dbSNP	rs61736154	Polymorphism	p.SER808LEU	N/A
dbSNP	rs61736128	Polymorphism	p.VAL1729LEU	N/A
dbSNP	rs58805228	Polymorphism	p.VAL1501MET	N/A

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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