Results for the protein: Q9Y210

Results for the Protein: Q9Y210

6686048

7225

TRPC6

NCBI, UniProt

TRPC6_HUMAN RecName: Full=Short transient receptor potential channel 6; Short=TrpC6; AltName: Full=Transient receptor protein 6; Short=TRP-6

Known Diseases associated with this Protein:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 (FSGS2)

12

6

6

4

8

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Default View: ANK - cd00204 TRP_2 - pfam08344 Ion_trans - pfam00520	Swiss-Prot Protein: Q9Y210 Identical to: NP_004612 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	3.7e-39	496	727
TRP_2	pfam08344	2.2e-40	253	315

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs36111323	Polymorphism	p.ALA404VAL	N/A
Swiss-Prot	VAR_026733	Disease	p.ARG895CYS	Focal segmental glomerulosclerosis 2 (FSGS2)
Swiss-Prot	VAR_067249	Polymorphism	p.ARG895LEU	N/A
Swiss-Prot	VAR_067247	Polymorphism	p.ASN125SER	N/A
Swiss-Prot	VAR_026731	Disease	p.ASN143SER	Focal segmental glomerulosclerosis 2 (FSGS2)
dbSNP	rs35857503	Polymorphism	p.ASN157THR	N/A
dbSNP	rs61732606	Polymorphism	p.ASP818ALA	N/A
Swiss-Prot	VAR_026734	Disease	p.GLU897LYS	Focal segmental glomerulosclerosis 2 (FSGS2)
Swiss-Prot	VAR_067248	Disease	p.HIS218LEU	Focal segmental glomerulosclerosis 2 (FSGS2)
Swiss-Prot	VAR_026730	Disease	p.PRO112GLN	Focal segmental glomerulosclerosis 2 (FSGS2)
Swiss-Prot	VAR_026732	Disease	p.SER270THR	Focal segmental glomerulosclerosis 2 (FSGS2)
dbSNP	rs61745699	Polymorphism	p.THR630PRO	N/A
OMIM	603652.0005	Disease	p.ARG895CYS	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
OMIM	603652.0002	Disease	p.ASN143SER	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
OMIM	603652.0006	Disease	p.GLU897LYS	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
OMIM	603652.0004	Disease	p.LYS874TER	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
OMIM	603652.0001	Disease	p.PRO112GLN	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
OMIM	603652.0003	Disease	p.SER270THR	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2

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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