Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q9Y5Z9
74753514

UBIA1_HUMAN RecName: Full=UbiA prenyltransferase domain-containing protein 1; AltName: Full=Transitional epithelial response protein 1

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, SCHNYDER
  CORNEAL DYSTROPHY, SCHNYDER TYPE (SCCD)
29
1
10
0
20
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:

UbiA - COG0382
MenA - COG1575
UbiA - pfam01040


Swiss-Prot Protein: Q9Y5Z9
Identical to: NP_037451
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
UbiACOG03821.7e-0636332
MenACOG15755.1e-2744334
UbiApfam010403.7e-4858326

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064337Diseasep.ALA97THRCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043717Diseasep.ARG119GLYCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043714Diseasep.ASN102SERCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043723Diseasep.ASN232SERCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_064339Diseasep.ASP112ASNCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_064343Diseasep.ASP240ASNCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043724Diseasep.ASP236GLUCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043715Diseasep.ASP112GLYCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043716Diseasep.ASP118GLYCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043721Diseasep.GLY177ARGCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043722Diseasep.GLY186ARGCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_069267Diseasep.GLY177GLUCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_064338Diseasep.GLY98SERCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_064342Diseasep.LEU188HISCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043718Diseasep.LEU121PHECorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043713Polymorphismp.SER75PHEN/A
Swiss-ProtVAR_043719Diseasep.SER171PROCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_043720Diseasep.THR175ILECorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_064340Diseasep.VAL122GLUCorneal dystrophy, Schnyder type (SCCD)
Swiss-ProtVAR_064341Diseasep.VAL122GLYCorneal dystrophy, Schnyder type (SCCD)
OMIM611632.0003 Diseasep.ARG119GLYCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0001 Diseasep.ASN102SERCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0005 Diseasep.ASN232SERCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0009 Diseasep.ASP236GLUCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0006 Diseasep.ASP112GLYCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0002 Diseasep.GLY177ARGCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0008 Diseasep.GLY186ARGCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0010 Diseasep.GLY177GLUCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0007 Diseasep.SER171PROCORNEAL DYSTROPHY, SCHNYDER
OMIM611632.0004 Diseasep.THR175ILECORNEAL DYSTROPHY, SCHNYDER



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258