Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q08J23
148887180

NSUN2_HUMAN RecName: Full=tRNA (cytosine(34)-C(5))-methyltransferase; AltName: Full=Myc-induced SUN domain-containing protein; Short=Misu; AltName: Full=NOL1/NOP2/Sun domain family member 2; AltName: Full=Substrate of AIM1/Aurora kinase B; AltName: Full=tRNA (cytosine-5-)-methyltransferase; AltName: Full=tRNA methyltransferase 4 homolog; Short=hTrm4

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (MRT5)
4
2
3
2
1
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:

Sun - COG0144
Nol1_Nop2_Fmu - pfam01189


Swiss-Prot Protein: Q08J23
Identical to: NP_060225
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Nol1_Nop2_Fmupfam011896e-13102378

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068530Diseasep.GLY679ARGMental retardation, autosomal recessive 5 (MRT5)
dbSNPrs61744358 Polymorphismp.PRO760ARGN/A
dbSNPrs2303708 Polymorphismp.VAL627ILEN/A
OMIM610916.0001 Diseasep.GLN227TERMENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
OMIM610916.0002 Diseasep.GLN372TERMENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
OMIM610916.0004 Diseasep.GLY679ARGMENTAL RETARDATION, AUTOSOMAL RECESSIVE 5



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