Results for the protein: P07320

Results for the Protein: P07320

2506321

1421

CRYGD

NCBI, UniProt

CRGD_HUMAN RecName: Full=Gamma-crystallin D; AltName: Full=Gamma-D-crystallin; AltName: Full=Gamma-crystallin 4

Known Diseases associated with this Protein:
  CATARACT 4 WITH MICROCORNEA
  CATARACT 4, ACULEIFORM
  CATARACT 4, CENTRAL NUCLEAR
  CATARACT 4, CRYSTALLINE
  CATARACT 4, MULTIPLE TYPES
  CATARACT 4, MULTIPLE TYPES (CTRCT4)
  CATARACT 4, NONNUCLEAR POLYMORPHIC CONGENITAL
  CATARACT 4, PUNCTATE

14

1

7

0

8

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: XTALbg - smart00247 Crystall - pfam00030	Swiss-Prot Protein: P07320 Identical to: NP_008822 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Crystall	pfam00030	1.2e-44	89	170
XTALbg	smart00247	3e-42	3	82
XTALbg	smart00247	7.5e-45	89	170

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010733	Disease	p.ARG15CYS	Cataract 4, multiple types (CTRCT4)
Swiss-Prot	VAR_010735	Disease	p.ARG59HIS	Cataract 4, multiple types (CTRCT4)
Swiss-Prot	VAR_010734	Disease	p.ARG37SER	Cataract 4, multiple types (CTRCT4)
Swiss-Prot	VAR_034956	Disease	p.GLU107ALA	Cataract 4, multiple types (CTRCT4)
Swiss-Prot	VAR_021146	Polymorphism	p.MET102VAL	N/A
Swiss-Prot	VAR_034955	Disease	p.PRO24SER	Cataract 4, multiple types (CTRCT4)
Swiss-Prot	VAR_021145	Disease	p.PRO24THR	Cataract 4, multiple types (CTRCT4)
Swiss-Prot	VAR_064829	Disease	p.TRP43ARG	Cataract 4, multiple types (CTRCT4)
OMIM	123690.0001	Disease	p.ARG15CYS	CATARACT 4, PUNCTATE
OMIM	123690.0002	Disease	p.ARG59HIS	CATARACT 4, ACULEIFORM
OMIM	123690.0003	Disease	p.ARG37SER	CATARACT 4, CRYSTALLINE
OMIM	123690.0007	Disease	p.PRO24SER	CATARACT 4, NONNUCLEAR POLYMORPHIC CONGENITAL
OMIM	123690.0004	Disease	p.PRO24THR	CATARACT 4, MULTIPLE TYPES
OMIM	123690.0005	Disease	p.TRP157TER	CATARACT 4, CENTRAL NUCLEAR
OMIM	123690.0008	Disease	p.TYR134TER	CATARACT 4 WITH MICROCORNEA

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