Results for the protein: Q9BQS8

Results for the Protein: Q9BQS8

322510128

79443

FYCO1

NCBI, UniProt

FYCO1_HUMAN RecName: Full=FYVE and coiled-coil domain-containing protein 1; AltName: Full=Zinc finger FYVE domain-containing protein 7

Known Diseases associated with this Protein:
CATARACT 18 (CTRCT18)
CATARACT 18, AUTOSOMAL RECESSIVE

5

11

4

9

3

Tips:

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

Clicking a check box will display or hide the correlated domain.

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

Default View: FYVE - smart00064 FYVE - pfam01363 FYVE - cd00065	Swiss-Prot Protein: Q9BQS8 Identical to: NP_078789 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FYVE	pfam01363	2.9e-22	1168	1232
FYVE	smart00064	4.4e-22	1167	1232

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3796375	Polymorphism	p.ALA679VAL	N/A
dbSNP	rs33910087	Polymorphism	p.ARG447CYS	N/A
Swiss-Prot	VAR_027006	Polymorphism	p.ARG250GLN	N/A
dbSNP	rs9875356	Polymorphism	p.ARG282HIS	N/A
dbSNP	rs4683158	Polymorphism	p.ARG250LEU	N/A
dbSNP	rs13059238	Polymorphism	p.ASN1001ASP	N/A
dbSNP	rs13079478	Polymorphism	p.ASN1001LYS	N/A
dbSNP	rs117543659	Polymorphism	p.GLU238ALA	N/A
dbSNP	rs34801630	Polymorphism	p.GLU994LYS	N/A
dbSNP	rs3733100	Polymorphism	p.GLY321ALA	N/A
Swiss-Prot	VAR_065974	Disease	p.LEU1376PRO	Cataract 18 (CTRCT18)
Swiss-Prot	VAR_027009	Polymorphism	p.THR381MET	N/A
OMIM	607182.0001	Disease	p.GLN349TER	CATARACT 18, AUTOSOMAL RECESSIVE
OMIM	607182.0006	Disease	p.GLN516TER	CATARACT 18, AUTOSOMAL RECESSIVE
OMIM	607182.0002	Disease	p.GLN736TER	CATARACT 18, AUTOSOMAL RECESSIVE
OMIM	607182.0005	Disease	p.LEU1376PRO	CATARACT 18, AUTOSOMAL RECESSIVE

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258