Results for the protein: P53675

Results for the Protein: P53675

2506298

8218

CLTCL1

NCBI, UniProt

CLH2_HUMAN RecName: Full=Clathrin heavy chain 2; AltName: Full=Clathrin heavy chain on chromosome 22; Short=CLH-22

			0 13 0 10 3

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Default View: Clathrin-link - pfam09268 CLH - smart00299	Swiss-Prot Protein: P53675 Identical to: NP_009029 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CLH	smart00299	2.8e-37	537	675
CLH	smart00299	1.7e-42	686	824
CLH	smart00299	9.8e-35	833	968
CLH	smart00299	5.1e-44	979	1120
CLH	smart00299	1.1e-35	1128	1265
CLH	smart00299	3.3e-45	1274	1416
CLH	smart00299	1.1e-48	1423	1578

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs712952	Polymorphism	p.ARG1046CYS	N/A
Swiss-Prot	VAR_059218	Polymorphism	p.ARG1620HIS	N/A
dbSNP	rs36077768	Polymorphism	p.ARG945HIS	N/A
dbSNP	rs807547	Polymorphism	p.ASN1195SER	N/A
dbSNP	rs1060374	Polymorphism	p.GLU691LYS	N/A
dbSNP	rs1633399	Polymorphism	p.ILE1394THR	N/A
dbSNP	rs5746697	Polymorphism	p.LYS205ARG	N/A
Swiss-Prot	VAR_055657	Polymorphism	p.LYS941ARG	N/A
dbSNP	rs1061325	Polymorphism	p.MET1316VAL	N/A
dbSNP	rs3747059	Polymorphism	p.PRO61LEU	N/A
dbSNP	rs807459	Polymorphism	p.TYR279CYS	N/A
dbSNP	rs2073738	Polymorphism	p.VAL1592LEU	N/A
Swiss-Prot	VAR_059217	Polymorphism	p.VAL1592MET	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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