Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: O14686
313104132

KMT2D_HUMAN RecName: Full=Histone-lysine N-methyltransferase 2D; Short=Lysine N-methyltransferase 2D; AltName: Full=ALL1-related protein; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 2

Known Diseases associated with this Protein:
  KABUKI SYNDROME 1 (KABUK1)
7
14
0
4
17
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:

PHD - smart00249
RING - cd00162
PHD - pfam00628
RING - smart00184
HMG - smart00398
COG2940 - COG2940
FYRN - pfam05964
FYRN - smart00541
FYRC - pfam05965
FYRC - smart00542
SET - smart00317
SET - pfam00856
PostSET - smart00508


Swiss-Prot Protein: O14686
Identical to: NP_003473
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PHDpfam006286.9e-10228276
PHDpfam006281.5e-10277323
PHDpfam006282.3e-1213791430
PHDpfam006282.3e-1014311477
PHDpfam006289.3e-0515061559
COG2940COG29400.0006450855537
SETpfam008565.6e-3754085513
PHDsmart002491.3e-05171217
PHDsmart002497.5e-09228273
RINGsmart001841.3e-05229273
PHDsmart002496.3e-14275320
PHDsmart002493.2e-1113791427
PHDsmart002492.3e-1314291474
PHDsmart002498.4e-0815061556
HMGsmart003987e-0720122079
PHDsmart002498e-0650915136
FYRNpfam059642.7e-2651805233
FYRNsmart005414.3e-2251915234
FYRCpfam059659.5e-3652365323
FYRCsmart005421.3e-4152405327
SETsmart003171.6e-3753985512
PostSETsmart005081.7e-0655215537

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1064210 Polymorphismp.ALA476THRN/A
dbSNPrs55865069 Polymorphismp.ARG83GLNN/A
dbSNPrs75226229 Polymorphismp.PRO813LEUN/A
dbSNPrs80132640 Polymorphismp.SER4010PRON/A
Swiss-ProtVAR_057359Polymorphismp.ALA476THRN/A
Swiss-ProtVAR_064373Polymorphismp.ARG2460CYSN/A
Swiss-ProtVAR_063831Diseasep.ARG5179HISKabuki syndrome 1 (KABUK1)
Swiss-ProtVAR_063832Diseasep.ARG5214HISKabuki syndrome 1 (KABUK1)
Swiss-ProtVAR_017115Polymorphismp.ARG5224HISN/A
Swiss-ProtVAR_063833Diseasep.ARG5340LEUKabuki syndrome 1 (KABUK1)
Swiss-ProtVAR_064377Polymorphismp.ARG4357SERN/A
Swiss-ProtVAR_064376Polymorphismp.ASP3419GLYN/A
Swiss-ProtVAR_063830Diseasep.CYS5109PHEKabuki syndrome 1 (KABUK1)
Swiss-ProtVAR_064379Diseasep.GLY5428ASPKabuki syndrome 1 (KABUK1)
Swiss-ProtVAR_064375Polymorphismp.MET3398VALN/A
Swiss-ProtVAR_064374Polymorphismp.PRO2557LEUN/A
Swiss-ProtVAR_064371Polymorphismp.PRO813LEUN/A
Swiss-ProtVAR_064372Polymorphismp.PRO2382SERN/A
Swiss-ProtVAR_064370Polymorphismp.PRO692THRN/A
Swiss-ProtVAR_063834Diseasep.THR5464METKabuki syndrome 1 (KABUK1)
Swiss-ProtVAR_064378Diseasep.TYR5210CYSKabuki syndrome 1 (KABUK1)



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