Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_777624
28373070

CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
3
0
3
0
0
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:

Glyco_transf_29 - pfam00777


RefSeq Protein: NP_777624
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM606494.0001 Diseasep.ALA13ASPMENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
OMIM606494.0003 Diseasep.ALA266PROEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
OMIM606494.0002 Diseasep.ASP316TYRMENTAL RETARDATION, AUTOSOMAL RECESSIVE 12



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