Results for the protein: Q9Y5K6

Results for the Protein: Q9Y5K6

30172980

23607

CD2AP

NCBI, UniProt

CD2AP_HUMAN RecName: Full=CD2-associated protein; AltName: Full=Adapter protein CMS; AltName: Full=Cas ligand with multiple SH3 domains

Known Diseases associated with this Protein:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3

1

3

1

3

0

Tips:

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Default View: SH3 - smart00326 SH3_2 - pfam07653	Swiss-Prot Protein: Q9Y5K6 Identical to: NP_036252 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SH3_2	pfam07653	2.6e-06	3	56
SH3	smart00326	1.1e-20	109	165
SH3_2	pfam07653	1.1e-11	112	164
SH3	smart00326	3.9e-21	270	328
SH3_2	pfam07653	9.1e-12	273	328

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34069459	Polymorphism	p.ASN581LYS	N/A
dbSNP	rs61747098	Polymorphism	p.ASP448ASN	N/A
dbSNP	rs116754410	Polymorphism	p.LYS633ARG	N/A
OMIM	604241.0002	Disease	p.ARG612TER	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3

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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