Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: O76039
6175070

CDKL5_HUMAN RecName: Full=Cyclin-dependent kinase-like 5; AltName: Full=Serine/threonine-protein kinase 9

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (EIEE2)
21
10
8
0
23
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:

STKc_JNK - cd07850
STKc_PAK6 - cd06659
STKc_PAK3 - cd06656
STKc_PAK2 - cd06655
STKc_p38 - cd07851
STKc_CDK9 - cd07865
PTKc_EGFR_like - cd05057
STKc_p38delta_MAPK13 - cd07879
STKc_JNK1 - cd07875
STKc_PAK_I - cd06647
STKc_PAK1 - cd06654
STKc_ROCK1 - cd05622
STKc_ROCK2 - cd05621
STKc_STK10_LOK - cd06644
PTKc_FGFR1 - cd05098
STKc_ROCK - cd05596
PTKc_FGFR4 - cd05099
STKc_TAO3 - cd06633
STKc_MAP4K4_6 - cd06636
STKc_TAO1 - cd06635
STKc_myosinIIIB - cd06639
STKc_PAK - cd06614
PTKc_FGFR2 - cd05101
STKc_PAK5 - cd06658
STKc_Sty1_Hog1 - cd07856
STKc_PAK4 - cd06657
PTKc_Tie2 - cd05088
STKc_PAK_II - cd06648
STKc_myosinIIIA - cd06638
STKc_CDK10 - cd07845
STKc_TAO2 - cd06634
PTKc_FGFR3 - cd05100
PTKc_ALK_LTK - cd05036
STKc_TAO - cd06607
STKc_p38gamma_MAPK12 - cd07880
STKc_p38beta_MAPK11 - cd07878
STKc_p38alpha_MAPK14 - cd07877
STKc_JNK2 - cd07876
PTKc_Hck - cd05073
STKc_ASK - cd06624
PKc_MKK7 - cd06618
STKc_JNK3 - cd07874
STKc_BUR1 - cd07866
STKc_PFTAIRE2 - cd07870
STKc_myosinIII_like - cd06608
STKc_TNIK - cd06637
PTKc_FAK - cd05056
PTK_CCK4 - cd05046
PTKc_PDGFR - cd05055
STKc_CDK12 - cd07864
STKc_CDC2L1 - cd07843
STKc_MAPK15 - cd07852
STKc_SLK - cd06643
PTKc_Ror - cd05048
STKc_SLK_like - cd06611
STKc_ERK1_2_like - cd07849
STKc_PCTAIRE_like - cd07844
STKc_MAPK4_6 - cd07854
STKc_TEY_MAPK_plant - cd07858
STKc_MAP4K5 - cd06646
STKc_ERK5 - cd07855
STKc_STK25-YSK1 - cd06642
STKc_MAP4K3 - cd06645
PTKc_TrkA - cd05092
STKc_MST4 - cd06640
STKc_MST3 - cd06641
PTKc_TrkB - cd05093
PKc_MKK4 - cd06616
STKc_YSK4 - cd06631
STKc_MST1_2 - cd06612
STKc_MAP4K3_like - cd06613
PTKc_InsR - cd05061
PTKc_InsR_like - cd05032
PTKc_Fyn_Yrk - cd05070
PTKc_Lyn - cd05072
STKc_PFTAIRE1 - cd07869
PTKc_Itk - cd05112
PTKc_DDR_like - cd05097
STKc_PCTAIRE3 - cd07871
PTKc_Btk_Bmx - cd05113
STKc_PCTAIRE1 - cd07873
PTKc_DDR2 - cd05095
STKc_Nek7 - cd08229
STKc_Nek6 - cd08228
STKc_Nek6_Nek7 - cd08224
STKc_PCTAIRE2 - cd07872
PTKc_Tec_Rlk - cd05114
PTKc_Abl - cd05052
PTKc_Trk - cd05049
PTKc_Csk_like - cd05039
PTKc_Chk - cd05083
PTKc_Tec_like - cd05059
PTKc_EphR - cd05033
PTKc_Csk - cd05082
PTKc_EphR_B - cd05065
PTKc_Lck_Blk - cd05067
PTKc_Frk_like - cd05068
PTKc_EphR_A - cd05066
PKc_MAPKK_PBS2_like - cd06622
PKc_MAPKK - cd06605
PKc_MEK1 - cd06650
PKc_MAPKK_plant_like - cd06623
STKc_MEKK1 - cd06630
PKc_MEK - cd06615
STKc_MEKK2 - cd06652
STKc_MST3_like - cd06609
STKc_OSR1_SPAK - cd06610
PKc_MKK3_6 - cd06617
PKc_MAPKK_Byr1_like - cd06620
STKc_CdkB_plant - cd07837
STKc_CDKL5 - cd07848
STKc_CDKL2_3 - cd07846
STKc_CDK6 - cd07862
SPS1 - COG0515
STKc_CDKL1_4 - cd07847
STKc_CDKL - cd07833
PKc_MEK2 - cd06649
PKc_MKK5 - cd06619
STKc_NAK1_like - cd06917
STKc_MEKK3_like_1 - cd06653
PKc_MAPKK_Pek1_like - cd06621
STKc_PKA - cd05580
STKc_phototropin_lik - cd05574
STKc_PDK1 - cd05581
STKc_DMPK_like - cd05597
STKc_ROCK_NDR_like - cd05573
PTKc_Jak_rpt2 - cd05038
STKc_MRCK_beta - cd05624
PTKc_Src_like - cd05034
PTKc_FGFR - cd05053
PTKc_EphR_A2 - cd05063
STKc_LATS - cd05598
PTKc_Musk - cd05050
STKc_LATS2 - cd05626
STKc_NDR2 - cd05627
STKc_NDR_like_fungal - cd05629
STKc_NDR_like - cd05599
STKc_LATS1 - cd05625
STKc_NDR1 - cd05628
STKc_CRIK - cd05601
STKc_Sid2p_Dbf2p - cd05600
STKc_MAST - cd05609
STKc_MRCK_alpha - cd05623
STKc_PRKX_like - cd05612
STKc_CDK4 - cd07863
STKc_Nek1 - cd08218
STKc_Nek3 - cd08219
STKc_CDK1_euk - cd07861
STKc_MPK1 - cd07857
STKc_TDY_MAPK_plant - cd07859
STKc_CDK8_like - cd07842
STKc_Nek2 - cd08217
STKc_NLK - cd07853
STKc_CDK2_3 - cd07860
STKc_Nek - cd08215
STKc_FA2-like - cd08529
STKc_CNK2-like - cd08530
STKc_CDK7 - cd07841
STKc_Nek10 - cd08528
STKc_Nek8 - cd08220
STKc_Nek11 - cd08222
STKc_Nek4 - cd08223
STKc_Nek5 - cd08225
STKc_Nek9 - cd08221
STKc_MAPKKK - cd06606
STKc_GRK4_like - cd05605
STKc_CDK5 - cd07839
STKc_cPKC_alpha - cd05615
STKc_cPKC_beta - cd05616
STKc_cPKC - cd05587
STKc_Yank1 - cd05578
PTKc_RET - cd05045
PKc_STE - cd05122
STKc_MSK_N - cd05583
STKc_GRK6 - cd05630
STKc_MSK2_N - cd05614
STKc_CCRK - cd07832
STKc_Pho85 - cd07836
STKc_GRK4 - cd05631
STKc_MAPK - cd07834
STKc_Cdc7_like - cd06627
STKc_MEKK3 - cd06651
STKc_GRK5 - cd05632
STKc_MSK1_N - cd05613
STKc_MAPKKK_Byr2_lik - cd06628
STKc_MOK - cd07831
STKc_CDK8 - cd07868
STKc_CDK9_like - cd07840
STKc_CDC2L6 - cd07867
STKc_CDK4_6_like - cd07838
STYKc - smart00221
STKc_CDK1_like - cd07835
TyrKc - smart00219
Pkinase_Tyr - pfam07714
Pkinase - pfam00069
PTKc_Jak1_rpt2 - cd05079
PTKc_Src - cd05071
PTKc_Tyk2_rpt2 - cd05080
PTKc_Jak2_Jak3_rpt2 - cd05081
STKc_MAK_like - cd07830
STKc_CMGC - cd05118
PTKc_Yes - cd05069
STKc_PKN - cd05589
STKc_CDK_like - cd07829
PTKc_Srm_Brk - cd05148
STKc_MAPKKK_Bck1_lik - cd06629
PK_STRAD - cd08216
PK_STRAD_beta - cd08226
STKc_Rim15_like - cd05611
STKc_RSK_N - cd05582
STKc_MEKK4 - cd06626
STKc_p70S6K - cd05584
STKc_PKB_alpha - cd05594
STKc_SGK2 - cd05603
STKc_PKB_beta - cd05595
STKc_SGK3 - cd05604
STKc_nPKC_delta - cd05620
STKc_PKB_gamma - cd05593
STKc_nPKC_epsilon - cd05591
STKc_nPKC_theta - cd05619
STKc_aPKC_iota - cd05618
STKc_aPKC_zeta - cd05617
STKc_SGK1 - cd05602
PTKc_Met_Ron - cd05058
PTKc_Syk_like - cd05060
PTKc_Tie - cd05047
PTKc_c-ros - cd05044
PTKc - cd00192
PTKc_Ack_like - cd05040
PTKc_Fes - cd05084
PTKc_Fer - cd05085
STKc_aPKC - cd05588
STKc_nPKC_eta - cd05590
STKc_SGK - cd05575
STKc_PKB - cd05571
PTKc_Syk - cd05116
STKc_PKC - cd05570
STKc_nPKC_theta_delt - cd05592
STKc_beta_ARK - cd05606
STKc_MEKK1_plant - cd06632
STKc_GRK3 - cd05633
STKc_MEKK3_like - cd06625
STKc_Sck1_like - cd05586
STKc_GRK7 - cd05607
STKc_YPK1_like - cd05585
STKc_GRK1 - cd05608
PKc - cd00180
PTKc_Aatyk - cd05042
PTKc_Fes_like - cd05041
PTKc_Zap-70 - cd05115
STKc_AGC - cd05123
STKc_GRK - cd05577
STKc_cGK_PKG - cd05572
STKc_MAST_like - cd05579
S_TKc - smart00220


Swiss-Prot Protein: O76039
Identical to: NP_001032420, NP_003150
   Default View:

































































































































































































































































Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PTKc_FGFR1cd050980.000191270
PTKc_FGFR4cd050998.7e-061283
STKc_ROCK2cd056211.6e-051355
STKc_ROCK1cd056220.000361325
STKc_ROCKcd055962.5e-051357
STKc_TAO3cd066335.9e-061298
STKc_TAO1cd066358e-081298
STKc_MAP4K4_6cd066367.2e-061252
STKc_myosinIIIBcd066391.1e-061264
STKc_STK10_LOKcd066446.4e-081285
STKc_PAK_Icd066472.2e-071289
STKc_PAK2cd066551.2e-071295
STKc_PAK3cd066561.2e-071296
STKc_PAK6cd066594.9e-081291
STKc_PAK1cd066541.7e-071294
STKc_JNKcd078503.6e-311333
STKc_p38cd078515.2e-251340
STKc_CDK9cd078651e-371297
STKc_JNK1cd078755.4e-121350
STKc_p38delta_MAPK13cd078791.4e-331351
PTKc_FGFR2cd051013.5e-052270
STKc_PAKcd066142.2e-172306
PTKc_Tie2cd050888.6e-053267
STKc_myosinIIIAcd066381.1e-063271
STKc_PAK_IIcd066482.7e-093274
STKc_PAK4cd066575.7e-073279
STKc_PAK5cd066585.6e-073288
STKc_Sty1_Hog1cd078569e-243318
PTKc_ALK_LTKcd050360.000324251
PTKc_FGFR3cd051000.000484300
STKc_TAOcd066071.8e-074337
STKc_TAO2cd066341.6e-084299
STKc_CDK10cd078451.9e-554307
PTKc_Hckcd050733.7e-065273
PKc_MKK7cd066181.5e-095276
STKc_ASKcd066245e-085263
STKc_JNK3cd078741e-175348
STKc_JNK2cd078761.1e-155348
STKc_p38alpha_MAPK14cd078774.6e-235337
STKc_p38gamma_MAPK12cd078801.8e-285339
STKc_p38beta_MAPK11cd078787.1e-275339
PTK_CCK4cd050460.000466253
PTKc_PDGFRcd050555.1e-056255
PTKc_FAKcd050561.6e-066270
STKc_myosinIII_likecd066082.6e-106252
STKc_TNIKcd066374.1e-076263
STKc_BUR1cd078669.3e-426297
STKc_PFTAIRE2cd078701.9e-436297
PTKc_Rorcd050481.9e-057258
STKc_SLK_likecd066111.7e-097305
STKc_SLKcd066433.9e-087313
STKc_CDC2L1cd078439.7e-567297
STKc_MAPK15cd078521e-427333
STKc_CDK12cd078641.3e-537297
PTKc_TrkBcd050930.000248272
PTKc_TrkAcd050920.000548264
STKc_MST4cd066402.7e-078278
STKc_MST3cd066411.8e-078298
STKc_STK25-YSK1cd066423.1e-088281
STKc_MAP4K3cd066452.3e-088262
STKc_MAP4K5cd066461.1e-078291
STKc_PCTAIRE_likecd078441.2e-668297
STKc_ERK1_2_likecd078495.8e-388344
STKc_MAPK4_6cd078541.3e-158340
STKc_ERK5cd078552.5e-248338
STKc_TEY_MAPK_plantcd078581.7e-628343
PTKc_InsR_likecd050323.9e-059260
PTKc_InsRcd050610.000649282
PTKc_Fyn_Yrkcd050700.000299273
PTKc_Lyncd050721.2e-059273
STKc_MST1_2cd066121.7e-149297
PKc_MKK4cd066162e-089270
STKc_MAP4K3_likecd066133.1e-139256
STKc_YSK4cd066319.2e-109263
PTKc_EphRcd050330.0001810307
PTKc_Csk_likecd050393.4e-0510223
PTKc_Trkcd050492.1e-0710249
PTKc_Ablcd050522.4e-0710262
PTKc_Tec_likecd050595e-0610271
PTKc_EphR_Bcd050655.2e-0510275
PTKc_EphR_Acd050660.0003210274
PTKc_Frk_likecd050683e-0710273
PTKc_Lck_Blkcd050670.0002610273
PTKc_Cskcd050829.6e-0510254
PTKc_Chkcd050830.0001310261
PTKc_DDR2cd050950.0008710259
PTKc_DDR_likecd050970.000910253
PTKc_Itkcd051121.3e-0610257
PTKc_Btk_Bmxcd051138e-0710252
PTKc_Tec_Rlkcd051145.3e-0610253
STKc_PFTAIRE1cd078693.6e-4110307
STKc_PCTAIRE3cd078713.7e-5210297
STKc_PCTAIRE2cd078724e-4110324
STKc_PCTAIRE1cd078731.4e-4810307
STKc_Nek6_Nek7cd082245e-1110275
STKc_Nek6cd082282.2e-0810275
STKc_Nek7cd082292.6e-1010264
PTKc_Src_likecd050345.8e-0611273
PTKc_Muskcd050505.3e-0711260
PTKc_FGFRcd050531.3e-0511251
PTKc_EphR_A2cd050630.0007711274
PTKc_Jak_rpt2cd050381e-0711253
STKc_ROCK_NDR_likecd055735.4e-1311367
STKc_PKAcd055803.5e-1311346
STKc_phototropin_likcd055742.4e-0511262
STKc_PDK1cd055811.8e-1811297
STKc_DMPK_likecd055976.9e-0911322
STKc_LATScd055981.4e-0611366
STKc_NDR_likecd055991.1e-0711278
STKc_Sid2p_Dbf2pcd056005.5e-0911344
STKc_CRIKcd056019.1e-1011367
STKc_MASTcd056092.2e-0911324
STKc_PRKX_likecd056129.9e-0811336
STKc_MRCK_alphacd056233.5e-0811301
STKc_LATS1cd056252.6e-0511346
STKc_LATS2cd056267.2e-0511343
STKc_NDR2cd056278.3e-0611357
STKc_NDR1cd056282.2e-0611334
STKc_NDR_like_fungalcd056290.0005511357
STKc_MRCK_betacd056245e-0811300
PKc_MAPKKcd066052.4e-1211260
STKc_MST3_likecd066094.2e-1111266
STKc_OSR1_SPAKcd066104.9e-1111297
PKc_MEKcd066154.8e-1211323
PKc_MKK3_6cd066175.7e-1011274
PKc_MAPKK_Byr1_likecd066203.7e-0711322
PKc_MAPKK_Pek1_likecd066211.3e-1011266
PKc_MAPKK_PBS2_likecd066221.5e-0811314
STKc_MEKK1cd066304.3e-0911298
PKc_MAPKK_plant_likecd066232.9e-1811301
PKc_MEK1cd066501.7e-0611352
STKc_MEKK2cd066526.7e-0611265
STKc_MEKK3_like_1cd066534.9e-0711264
PKc_MEK2cd066491.4e-0711333
PKc_MKK5cd066191.2e-0511315
STKc_NAK1_likecd069175.8e-1011278
STKc_CDKLcd078331.3e-22111297
STKc_CdkB_plantcd078374.6e-6611298
STKc_CDKL1_4cd078478.4e-11611297
STKc_CDKL5cd078486.7e-25111297
STKc_CDKL2_3cd078462.8e-13111297
STKc_CDK6cd078626e-4211297
SPS1COG05155.2e-6711483
PTKc_RETcd050450.0005412241
PKc_STEcd051222.4e-1912297
STKc_MSK_Ncd055835.1e-0912315
STKc_Yank1cd055782.1e-1212297
STKc_cPKCcd055872.7e-0812368
STKc_GRK4_likecd056052.1e-0912301
STKc_MSK2_Ncd056142e-0812354
STKc_cPKC_alphacd056151.1e-0712325
STKc_cPKC_betacd056162.1e-0612335
STKc_GRK6cd056301.4e-0512295
STKc_GRK4cd056312.1e-0612295
STKc_GRK5cd056327.3e-0712295
STKc_MSK1_Ncd056132.3e-0812315
STKc_MAPKKKcd066061.2e-1912297
STKc_MAPKKK_Byr2_likcd066288.2e-1212266
STKc_Cdc7_likecd066279.6e-1612297
STKc_MEKK3cd066517.2e-0912265
STKc_CCRKcd078326.1e-8312298
STKc_Pho85cd078363.3e-7112297
STKc_MAPKcd078341.5e-5512337
STKc_CDK5cd078392.1e-7112297
STKc_CDK7cd078412.9e-6012304
STKc_CDK8_likecd078421.5e-3412297
STKc_NLKcd078536e-1812366
STKc_TDY_MAPK_plantcd078595e-5612339
STKc_CDK2_3cd078607e-7212297
STKc_CDK1_eukcd078619.9e-7912297
STKc_CDK4cd078637.9e-4412297
STKc_MPK1cd078573.2e-3712333
STKc_Nek1cd082183.7e-1912263
STKc_Nek3cd082194.2e-2112263
STKc_Nek2cd082171.2e-1712297
STKc_Nek9cd082211.4e-1012297
STKc_Nek11cd082222.3e-0712271
STKc_Nek4cd082236.1e-1212263
STKc_Nek5cd082251.9e-1812263
STKc_Nek8cd082202.9e-1512297
STKc_Nekcd082154.3e-2112297
STKc_Nek10cd085283e-0912246
STKc_FA2-likecd085292.4e-1312252
STKc_CNK2-likecd085308.5e-1212297
PTKc_Yescd050692.4e-0513262
PTKc_Srccd050711.8e-0513264
PTKc_Jak1_rpt2cd050796.4e-0513301
PTKc_Tyk2_rpt2cd050801.7e-0513254
PTKc_Jak2_Jak3_rpt2cd050811.4e-0613256
STKc_CMGCcd051181.3e-12113297
PTKc_Srm_Brkcd051482e-0513254
STKc_PKNcd055899.9e-0813345
STKc_MAPKKK_Bck1_likcd066294.4e-0713257
STKc_CDK_likecd078294.7e-10213297
STKc_MAK_likecd078303.5e-7413297
STKc_CDK1_likecd078355.6e-7613297
STKc_CDK4_6_likecd078381.6e-3813297
STKc_CDK9_likecd078402.4e-7213297
STKc_MOKcd078317.4e-5713297
STKc_CDK8cd078681.2e-1313297
STKc_CDC2L6cd078671e-1613297
PK_STRADcd082161.2e-0514305
PK_STRAD_betacd082260.0009914308
STKc_RSK_Ncd055821.2e-0616323
STKc_p70S6Kcd055843.7e-0916336
STKc_Rim15_likecd056117.9e-0616299
STKc_MEKK4cd066263.2e-1416297
PTKccd001921.7e-1017296
PTKc_Ack_likecd050403.3e-0617251
PTKc_c-roscd050440.0007317246
PTKc_Tiecd050470.0006517264
PTKc_Met_Roncd050580.0003217276
PTKc_Syk_likecd050600.0001617256
PTKc_Fescd050849.1e-0617260
PTKc_Fercd050853.7e-0617265
PTKc_Sykcd051164.1e-0617264
STKc_PKCcd055701.8e-0917287
STKc_PKBcd055711.2e-0917334
STKc_SGKcd055759.1e-0717322
STKc_aPKCcd055881.8e-0817361
STKc_nPKC_etacd055907.8e-0617304
STKc_nPKC_theta_deltcd055924.1e-0817331
STKc_PKB_gammacd055932.9e-0617327
STKc_PKB_betacd055956.7e-0617334
STKc_SGK1cd056023.6e-0617354
STKc_PKB_alphacd055941.1e-0617326
STKc_SGK2cd056031.4e-0817335
STKc_SGK3cd056040.0001417336
STKc_aPKC_zetacd056172.9e-0717347
STKc_aPKC_iotacd056187.2e-0617327
STKc_nPKC_thetacd056194.3e-0817320
STKc_nPKC_deltacd056209.4e-0517320
STKc_nPKC_epsiloncd055911.7e-0817304
STKc_beta_ARKcd056064e-0618283
STKc_GRK3cd056337.9e-0518314
STKc_MEKK3_likecd066256.6e-1218252
STKc_MEKK1_plantcd066322.4e-1118252
PKccd001808.3e-7919295
PTKc_Fes_likecd050419.3e-0719229
PTKc_Aatykcd050429.3e-0619254
PTKc_Zap-70cd051156.6e-0519264
STKc_AGCcd051233.1e-1719297
STKc_cGK_PKGcd055725.5e-1219251
STKc_GRKcd055772.7e-0719272
STKc_MAST_likecd055792.6e-1519299
STKc_YPK1_likecd055855.7e-1019355
STKc_Sck1_likecd055863.4e-0919389
STKc_GRK7cd056075e-0719300
STKc_GRK1cd056087.4e-0919299
Pkinasepfam000698.9e-9613297
Pkinase_Tyrpfam077148.1e-1413249
TyrKcsmart002191e-1213258
STYKcsmart002213e-8913297
S_TKcsmart002202e-9423297

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_041997Polymorphismp.ALA374THRN/A
Swiss-ProtVAR_058022Diseasep.ALA40VALEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_058031Polymorphismp.ARG444CYSN/A
Swiss-ProtVAR_058033Polymorphismp.ARG923CYSN/A
Swiss-ProtVAR_058026Diseasep.ARG178PROEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_023561Diseasep.ARG175SEREpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_036578Polymorphismp.ASN368HISN/A
Swiss-ProtVAR_058030Diseasep.ASN399THREpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_023560Diseasep.CYS152PHEEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_058029Diseasep.CYS291TYREpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_023562Polymorphismp.GLN791PRON/A
Swiss-ProtVAR_042000Polymorphismp.GLU1023GLYN/A
Swiss-ProtVAR_058025Diseasep.HIS127ARGEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_058023Diseasep.ILE72ASNEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_058024Diseasep.ILE72THREpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_058027Diseasep.LEU220PROEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_041998Polymorphismp.PRO574GLNN/A
Swiss-ProtVAR_037635Diseasep.PRO180LEUEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_041999Polymorphismp.THR734ALAN/A
Swiss-ProtVAR_058028Diseasep.THR288ILEEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_037636Polymorphismp.VAL793ALAN/A
Swiss-ProtVAR_058032Diseasep.VAL718METEpileptic encephalopathy, early infantile, 2 (EIEE2)
Swiss-ProtVAR_037637Polymorphismp.VAL999METN/A
OMIM300203.0009 Diseasep.ALA40VALEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
OMIM300203.0014 Diseasep.ARG178PROEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
OMIM300203.0004 Diseasep.ARG175SEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
OMIM300203.0003 Diseasep.CYS152PHEEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
OMIM300203.0012 Diseasep.CYS291TYREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
OMIM300203.0007 Diseasep.GLN834TEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
OMIM300203.0010 Diseasep.ILE72THREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
OMIM300203.0011 Diseasep.THR288ILEEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2



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