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Results for the Protein: Q02750
400274

MP2K1_HUMAN RecName: Full=Dual specificity mitogen-activated protein kinase kinase 1; Short=MAP kinase kinase 1; Short=MAPKK 1; Short=MKK1; AltName: Full=ERK activator kinase 1; AltName: Full=MAPK/ERK kinase 1; Short=MEK 1

Known Diseases associated with this Protein:
  CARDIOFACIOCUTANEOUS SYNDROME 3
  CARDIOFACIOCUTANEOUS SYNDROME 3 (CFC3)
6
1
3
1
3
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_ROCK1 - cd05622
STKc_ROCK - cd05596
STKc_ROCK2 - cd05621
STKc_PAK4 - cd06657
STKc_PAK6 - cd06659
STKc_PAK1 - cd06654
STKc_PAK3 - cd06656
STKc_PAK2 - cd06655
STKc_PAK_I - cd06647
STKc_PAK - cd06614
STKc_PAK_II - cd06648
STKc_JNK2 - cd07876
PTKc_DDR2 - cd05095
STKc_JNK1 - cd07875
PTKc_DDR_like - cd05097
STKc_PAK5 - cd06658
STKc_myosinIIIB - cd06639
STKc_p38alpha_MAPK14 - cd07877
PTKc_Ror2 - cd05091
STKc_p38gamma_MAPK12 - cd07880
STKc_p38beta_MAPK11 - cd07878
PKc_MKK7 - cd06618
STKc_p38 - cd07851
STKc_JNK - cd07850
STKc_myosinIIIA - cd06638
PTKc_FGFR - cd05053
STKc_JNK3 - cd07874
STKc_TAO1 - cd06635
STKc_CDK9 - cd07865
STKc_MAP4K4_6 - cd06636
STKc_STK10_LOK - cd06644
STKc_TAO2 - cd06634
STKc_TAO - cd06607
STKc_MAP4K5 - cd06646
STKc_MAP4K3 - cd06645
STKc_ASK - cd06624
STKc_TAO3 - cd06633
STKc_Sty1_Hog1 - cd07856
STKc_BUR1 - cd07866
PTKc_HER4 - cd05110
PTKc_EGFR - cd05108
PTKc_EGFR_like - cd05057
PTKc_HER2 - cd05109
PTKc_Tie2 - cd05088
STKc_PCTAIRE2 - cd07872
STKc_CDK12 - cd07864
STKc_PCTAIRE1 - cd07873
PTKc_ALK_LTK - cd05036
STKc_CDK10 - cd07845
PTKc_Csk - cd05082
PTKc_Ror1 - cd05090
PTKc_Hck - cd05073
PTKc_Lyn - cd05072
PTKc_Fyn_Yrk - cd05070
PTKc_Src - cd05071
PTKc_TrkB - cd05093
PTKc_TrkA - cd05092
STKc_TEY_MAPK_plant - cd07858
PTKc_Yes - cd05069
PKc_MEK1 - cd06650
PKc_MEK2 - cd06649
PTKc_Srm_Brk - cd05148
PKc_MAPKK_Byr1_like - cd06620
PTKc_TrkC - cd05094
PTKc_Lck_Blk - cd05067
PTKc_Trk - cd05049
PTKc_Abl - cd05052
PTKc_Ror - cd05048
PTKc_Csk_like - cd05039
PTKc_Frk_like - cd05068
PTKc_Src_like - cd05034
PTKc_FAK - cd05056
PTKc_Musk - cd05050
PTKc_EphR_A - cd05066
PTKc_InsR - cd05061
PTKc_EphR_A10 - cd05064
PTKc_InsR_like - cd05032
PTKc_EphR_A2 - cd05063
PTKc_IGF-1R - cd05062
STKc_myosinIII_like - cd06608
PKc_MKK4 - cd06616
STKc_SLK - cd06643
STKc_Nek6 - cd08228
PTKc_Tec_Rlk - cd05114
STKc_Nek7 - cd08229
STKc_TNIK - cd06637
PTKc_Jak_rpt2 - cd05038
PTKc_Tec_like - cd05059
PTKc_EphR - cd05033
PTK_HER3 - cd05111
PTKc_Chk - cd05083
PTKc_Tie1 - cd05089
PTKc_Itk - cd05112
PTKc_Btk_Bmx - cd05113
STKc_PFTAIRE2 - cd07870
STKc_PFTAIRE1 - cd07869
STKc_PCTAIRE3 - cd07871
STKc_MAP4K3_like - cd06613
STKc_MST1_2 - cd06612
STKc_PCTAIRE_like - cd07844
STKc_MEKK3_like_1 - cd06653
STKc_MST3 - cd06641
STKc_MEKK2 - cd06652
STKc_ERK1_2_like - cd07849
STKc_STK25-YSK1 - cd06642
PTKc_EphR_B - cd05065
STKc_SLK_like - cd06611
STKc_MST4 - cd06640
PKc_MAPKK_plant_like - cd06623
STKc_NAK1_like - cd06917
PKc_MAPKK_PBS2_like - cd06622
STKc_MEKK3_like - cd06625
PKc_MKK5 - cd06619
STKc_CDKL - cd07833
STKc_OSR1_SPAK - cd06610
PKc_MKK3_6 - cd06617
PKc_MAPKK_Pek1_like - cd06621
STKc_ERK5 - cd07855
STKc_CDK6 - cd07862
STKc_Nek6_Nek7 - cd08224
SPS1 - COG0515
STKc_CDKL5 - cd07848
STKc_CDKL1_4 - cd07847
STKc_CDC2L1 - cd07843
STKc_CDKL2_3 - cd07846
STKc_CdkB_plant - cd07837
PKc_MEK - cd06615
STKc_LATS - cd05598
STKc_Sid2p_Dbf2p - cd05600
STKc_CRIK - cd05601
STKc_PDK1 - cd05581
STKc_PKA - cd05580
STKc_MST3_like - cd06609
STKc_ROCK_NDR_like - cd05573
STKc_phototropin_lik - cd05574
STKc_MAST - cd05609
STKc_DMPK_like - cd05597
STKc_NDR2 - cd05627
STKc_NDR_like_fungal - cd05629
STKc_NDR1 - cd05628
STKc_NDR_like - cd05599
STKc_LATS2 - cd05626
PKc_MAPKK - cd06605
STKc_MRCK_alpha - cd05623
STKc_PRKX_like - cd05612
STKc_MRCK_beta - cd05624
STKc_CDK1_euk - cd07861
STKc_CDK4 - cd07863
STKc_Nek1 - cd08218
STKc_CDK2_3 - cd07860
STKc_Nek2 - cd08217
STKc_NLK - cd07853
STKc_CDK7 - cd07841
STKc_CDK8_like - cd07842
STKc_Nek3 - cd08219
STKc_MPK1 - cd07857
STKc_TDY_MAPK_plant - cd07859
STKc_CNK2-like - cd08530
STKc_Nek - cd08215
STKc_Nek10 - cd08528
STKc_FA2-like - cd08529
STKc_Pho85 - cd07836
STKc_Nek9 - cd08221
PK_STRAD_alpha - cd08227
STKc_Nek11 - cd08222
STKc_Nek4 - cd08223
STKc_Nek5 - cd08225
STKc_Nek8 - cd08220
STKc_MEKK1 - cd06630
STKc_MSK1_N - cd05613
STKc_CDK5 - cd07839
STKc_cPKC_alpha - cd05615
STKc_cPKC_beta - cd05616
STKc_GRK4_like - cd05605
STKc_cPKC - cd05587
PTKc_RET - cd05045
PKc_STE - cd05122
STKc_Yank1 - cd05578
STKc_MSK_N - cd05583
STKc_GRK6 - cd05630
STKc_MSK2_N - cd05614
STKc_MEKK3 - cd06651
STKc_GRK4 - cd05631
STKc_MAPK - cd07834
STKc_YSK4 - cd06631
STKc_CCRK - cd07832
STKc_MAPKKK - cd06606
STKc_Cdc7_like - cd06627
STKc_GRK5 - cd05632
STKc_MAPKKK_Byr2_lik - cd06628
STKc_MAPK4_6 - cd07854
STKc_MAPK15 - cd07852
STKc_CDK9_like - cd07840
STKc_CDC2L6 - cd07867
Pkinase_Tyr - pfam07714
STYKc - smart00221
TyrKc - smart00219
STKc_CDK4_6_like - cd07838
Pkinase - pfam00069
PTKc_Jak2_Jak3_rpt2 - cd05081
STKc_CDK1_like - cd07835
STKc_PKN - cd05589
PTKc_Jak1_rpt2 - cd05079
STKc_CMGC - cd05118
STKc_LATS1 - cd05625
STKc_MOK - cd07831
STKc_MAK_like - cd07830
STKc_CDK_like - cd07829
PTKc_Tyk2_rpt2 - cd05080
PK_STRAD - cd08216
PK_STRAD_beta - cd08226
STKc_SGK1 - cd05602
STKc_RSK_N - cd05582
STKc_p70S6K - cd05584
STKc_nPKC_theta_delt - cd05592
STKc_SGK2 - cd05603
STKc_nPKC_theta - cd05619
STKc_aPKC - cd05588
STKc_nPKC_eta - cd05590
PTKc_Met_Ron - cd05058
PTKc_Fes_like - cd05041
PTKc_Ack_like - cd05040
PTKc_Syk_like - cd05060
PTKc - cd00192
PTKc_Syk - cd05116
PTKc_Fes - cd05084
STKc_SGK - cd05575
STKc_MAPKKK_Bck1_lik - cd06629
PTKc_Zap-70 - cd05115
STKc_GRK1 - cd05608
STKc_GRK7 - cd05607
STKc_beta_ARK - cd05606
STKc_aPKC_zeta - cd05617
STKc_SGK3 - cd05604
STKc_MEKK4 - cd06626
STKc_PKB_beta - cd05595
STKc_MEKK1_plant - cd06632
STKc_GRK3 - cd05633
STKc_nPKC_delta - cd05620
STKc_aPKC_iota - cd05618
PTKc_Fer - cd05085
STKc_PKC - cd05570
STKc_PKB_alpha - cd05594
STKc_AGC - cd05123
PTKc_Tie - cd05047
PKc - cd00180
PTKc_c-ros - cd05044
STKc_cGK_PKG - cd05572
STKc_PKB - cd05571
STKc_nPKC_epsilon - cd05591
STKc_PKB_gamma - cd05593
STKc_GRK - cd05577
STKc_Sck1_like - cd05586
STKc_YPK1_like - cd05585
STKc_MAST_like - cd05579
S_TKc - smart00220
STKc_Rim15_like - cd05611
KIND - smart00750


Swiss-Prot Protein: Q02750
Identical to: NP_002746
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
STKc_ROCKcd055961.5e-0628378
STKc_ROCK1cd056221.7e-0628365
STKc_ROCK2cd056215.5e-0735378
STKc_PAKcd066142.6e-2543375
STKc_PAK_Icd066472.7e-0843382
STKc_PAK_IIcd066481.2e-1443379
STKc_PAK2cd066551.4e-0843347
STKc_PAK3cd066561.9e-0943348
STKc_PAK4cd066574.3e-0743388
STKc_PAK6cd066592e-1043389
STKc_PAK1cd066541.6e-0843392
PTKc_DDR2cd050950.0007544319
STKc_JNK2cd078760.0003344382
PTKc_DDR_likecd050970.0001845339
STKc_JNK1cd078750.0002445382
STKc_PAK5cd066589.6e-0847337
STKc_myosinIIIBcd066394.6e-1050362
PTKc_Ror2cd050915.6e-0551300
STKc_p38alpha_MAPK14cd078777.5e-0651387
PKc_MKK7cd066185.7e-8353381
STKc_p38cd078516.4e-0753387
STKc_p38beta_MAPK11cd078780.0002353373
STKc_p38gamma_MAPK12cd078807.6e-0753373
STKc_myosinIIIAcd066384.8e-1154361
STKc_JNKcd078501.5e-0654391
PTKc_FGFRcd050530.0002255319
STKc_TAO1cd066352e-0755383
STKc_JNK3cd078740.0005555382
STKc_MAP4K4_6cd066369.1e-1456361
STKc_STK10_LOKcd066441.2e-2156379
STKc_CDK9cd078659.2e-0756361
STKc_TAOcd066073.4e-0957383
STKc_TAO2cd066342.1e-0857384
STKc_MAP4K3cd066455.8e-1958360
STKc_MAP4K5cd066462.5e-2158360
STKc_TAO3cd066331.3e-0559383
STKc_ASKcd066241.5e-1459361
PTKc_EGFR_likecd050573.4e-0760300
PTKc_Tie2cd050889.7e-0560352
PTKc_EGFRcd051081.1e-0760377
PTKc_HER2cd051094.5e-0860333
PTKc_HER4cd051101.2e-0560342
STKc_Sty1_Hog1cd078561.4e-0660364
STKc_BUR1cd078661e-0660337
PTKc_ALK_LTKcd050363.4e-0861316
STKc_CDK10cd078451.5e-0861348
STKc_CDK12cd078641.5e-0861337
STKc_PCTAIRE2cd078725.2e-1061382
STKc_PCTAIRE1cd078739e-0961365
PTKc_InsR_likecd050322.1e-0762285
PTKc_Src_likecd050346.9e-0862317
PTKc_Csk_likecd050390.0001962300
PTKc_Rorcd050489.1e-0762300
PTKc_Muskcd050501.3e-0762316
PTKc_Trkcd050491.2e-0562316
PTKc_Ablcd050522.2e-0762318
PTKc_FAKcd050563.9e-0662322
PTKc_InsRcd050617.9e-0562330
PTKc_IGF-1Rcd050623e-0562319
PTKc_EphR_A2cd050632.8e-0562318
PTKc_EphR_A10cd050640.0001262318
PTKc_EphR_Acd050660.0003662318
PTKc_Lck_Blkcd050671.2e-0562337
PTKc_Frk_likecd050682e-0862321
PTKc_Yescd050693e-0562316
PTKc_Fyn_Yrkcd050705.2e-0562321
PTKc_Srccd050713.8e-0562318
PTKc_Lyncd050728.4e-0662321
PTKc_Hckcd050734.9e-0562321
PTKc_Cskcd050821.4e-0562317
PTKc_Ror1cd050900.0001562317
PTKc_TrkBcd050930.0001362326
PTKc_TrkCcd050941.9e-0562372
PTKc_TrkAcd050923.1e-0562316
PTKc_Srm_Brkcd051484.6e-0662360
PKc_MAPKK_Byr1_likecd066205.4e-14762375
PKc_MEK2cd066493.4e-26362388
PKc_MEK1cd066501.2e-30162392
STKc_TEY_MAPK_plantcd078581.6e-0562379
PTKc_EphRcd050332.3e-0663301
PTKc_Jak_rpt2cd050381.5e-1063358
PTKc_Tec_likecd050591.1e-0963318
PTKc_Chkcd050832.1e-0663320
PTKc_Tie1cd050897.7e-0563320
PTKc_Itkcd051123.6e-0963338
PTKc_Btk_Bmxcd051131.3e-0863333
PTK_HER3cd051112e-0663344
PTKc_Tec_Rlkcd051142.3e-0763318
STKc_myosinIII_likecd066082.8e-1863361
PKc_MKK4cd066162.1e-6663379
STKc_SLKcd066433.1e-1663368
STKc_TNIKcd066374.5e-1463361
STKc_Nek6cd082281e-1363366
STKc_Nek7cd082299.2e-1463366
STKc_MST1_2cd066121.4e-3464361
STKc_MAP4K3_likecd066137.6e-4464360
STKc_PCTAIRE_likecd078442.7e-1664361
STKc_PFTAIRE1cd078695.3e-0664373
STKc_PFTAIRE2cd078702.4e-0964361
STKc_PCTAIRE3cd078716.8e-1064361
PTKc_EphR_Bcd050651.6e-0565318
STKc_SLK_likecd066112.8e-1665377
STKc_MST4cd066404.9e-3065375
STKc_STK25-YSK1cd066427.4e-2965375
STKc_MEKK2cd066529.3e-0865362
STKc_MEKK3_like_1cd066535.9e-0965318
STKc_MST3cd066414.3e-2965375
STKc_ERK1_2_likecd078495e-0765362
STKc_ROCK_NDR_likecd055731.4e-0966340
STKc_phototropin_likcd055743.3e-0766369
STKc_PKAcd055802e-1066340
STKc_PDK1cd055817.3e-1466361
STKc_DMPK_likecd055973.8e-0766377
STKc_LATScd055981.4e-0666375
STKc_Sid2p_Dbf2pcd056001.2e-0566373
STKc_CRIKcd056013.2e-0866377
STKc_MASTcd056091.2e-0866370
STKc_NDR_likecd055999.4e-0666343
STKc_PRKX_likecd056121.7e-0766338
STKc_MRCK_alphacd056232.3e-0666364
STKc_MRCK_betacd056242.5e-0666374
STKc_LATS2cd056260.0003566375
STKc_NDR2cd056279.2e-0566383
STKc_NDR_like_fungalcd056298.2e-0566380
STKc_NDR1cd056285.1e-0666365
PKc_MAPKKcd066051.6e-22366366
STKc_MST3_likecd066093.6e-3366375
STKc_OSR1_SPAKcd066101.7e-2266361
PKc_MEKcd066152.4e-26466379
PKc_MKK3_6cd066172.1e-8366380
PKc_MKK5cd066196.5e-9366383
PKc_MAPKK_Pek1_likecd066212e-9266379
PKc_MAPKK_PBS2_likecd066226e-10166382
PKc_MAPKK_plant_likecd066236.3e-10866366
STKc_MEKK3_likecd066257.7e-1966361
STKc_NAK1_likecd069175.1e-1666380
STKc_CDKLcd078333.4e-1366361
STKc_CdkB_plantcd078374e-1166362
STKc_CDC2L1cd078436.7e-0866361
STKc_CDKL2_3cd078462.5e-1166361
STKc_CDKL1_4cd078473.4e-3066361
STKc_CDKL5cd078483e-0766361
STKc_ERK5cd078556.1e-0666388
STKc_CDK6cd078623.9e-0666337
STKc_Nek6_Nek7cd082241.5e-1466366
SPS1COG05153e-3766391
PTKc_RETcd050450.0003967341
PKc_STEcd051225.2e-16867360
STKc_Yank1cd055786.9e-1367361
STKc_MSK_Ncd055832.2e-0867387
STKc_cPKCcd055875.6e-0767373
STKc_GRK4_likecd056052e-0767365
STKc_MSK1_Ncd056134.9e-0867363
STKc_MSK2_Ncd056141.1e-0667392
STKc_cPKC_alphacd056153.4e-0667373
STKc_cPKC_betacd056163.9e-0667373
STKc_GRK6cd056304.8e-0567328
STKc_GRK4cd056312.9e-0567328
STKc_GRK5cd056326.5e-0567346
STKc_MAPKKKcd066066.3e-3467361
STKc_Cdc7_likecd066274.1e-2167361
STKc_MAPKKK_Byr2_likcd066284.9e-2167317
STKc_MEKK1cd066301.9e-1267320
STKc_YSK4cd066317.9e-1367361
STKc_MEKK3cd066516.2e-1167363
STKc_CCRKcd078323.8e-1467362
STKc_MAPKcd078343e-0867389
STKc_CDK5cd078393.8e-1267361
STKc_Pho85cd078361.5e-1767361
STKc_CDK7cd078416.5e-1167326
STKc_CDK8_likecd078422.5e-0767337
STKc_NLKcd078537e-0667389
STKc_MPK1cd078571.6e-0567389
STKc_TDY_MAPK_plantcd078597.7e-0767384
STKc_CDK2_3cd078601.1e-1567361
STKc_CDK1_eukcd078613.3e-1967361
STKc_CDK4cd078637.4e-0867337
STKc_Nek2cd082171.9e-1567361
STKc_Nek1cd082181.7e-1167317
STKc_Nek3cd082195.8e-1267318
STKc_Nek8cd082204.9e-0967361
STKc_Nek11cd082228.6e-0967318
STKc_Nek4cd082235.7e-0867338
STKc_Nek5cd082251.3e-1067319
PK_STRAD_alphacd082275.1e-0667378
STKc_Nek9cd082211.2e-0967298
STKc_Nekcd082152.7e-3667361
STKc_Nek10cd085289.3e-0967363
STKc_FA2-likecd085291.4e-1567361
STKc_CNK2-likecd085302.9e-1367361
PTKc_Jak1_rpt2cd050790.0001568361
PTKc_Tyk2_rpt2cd050803.2e-0568319
PTKc_Jak2_Jak3_rpt2cd050811.2e-0868363
STKc_CMGCcd051188.9e-1668361
STKc_PKNcd055893e-0768366
STKc_LATS1cd056254.1e-0568380
STKc_CDK_likecd078297e-1768361
STKc_MAK_likecd078306e-1168361
STKc_MOKcd078311.7e-0768361
STKc_CDK1_likecd078351.1e-1468361
STKc_CDK4_6_likecd078381.9e-0968361
STKc_CDK9_likecd078404.2e-1168361
STKc_MAPK15cd078529.5e-0968379
STKc_MAPK4_6cd078542.7e-0568388
STKc_CDC2L6cd078670.0005968361
PK_STRADcd082161.9e-0769370
PK_STRAD_betacd082265.7e-0669378
STKc_SGK1cd056020.000270379
STKc_RSK_Ncd055821.6e-0671361
STKc_p70S6Kcd055842.2e-0671371
PTKccd001921.1e-0972360
PTKc_Ack_likecd050404.6e-0972319
PTKc_Fes_likecd050419.7e-1172299
PTKc_Met_Roncd050580.0003372320
PTKc_Syk_likecd050605e-0772280
PTKc_Fescd050843.5e-0972339
PTKc_Sykcd051169.8e-0872318
STKc_SGKcd055751.1e-0572390
STKc_aPKCcd055881.8e-0772373
STKc_nPKC_etacd055901.7e-0672367
STKc_nPKC_theta_deltcd055927e-0972374
STKc_SGK2cd056032.2e-0672385
STKc_nPKC_thetacd056192e-0872365
PTKc_Zap-70cd051153.6e-0773316
STKc_MAPKKK_Bck1_likcd066296.5e-1173361
PKccd001807e-6574359
PTKc_c-roscd050440.0001174299
PTKc_Tiecd050470.0004374319
PTKc_Fercd050851.3e-0674316
STKc_AGCcd051235.5e-1674361
STKc_PKCcd055703.8e-1074366
STKc_PKBcd055712.3e-1074374
STKc_cGK_PKGcd055728.5e-1474368
STKc_GRKcd055773.1e-0974327
STKc_MAST_likecd055795.1e-1474366
STKc_YPK1_likecd055852.4e-0874376
STKc_Sck1_likecd055863.2e-0774389
STKc_nPKC_epsiloncd055913.5e-0774367
STKc_PKB_gammacd055937.5e-0774382
STKc_PKB_alphacd055943.7e-0874369
STKc_PKB_betacd055955.6e-0774374
STKc_SGK3cd056040.0002974376
STKc_beta_ARKcd056063.3e-0874327
STKc_GRK7cd056072.8e-0774327
STKc_GRK1cd056081.5e-0774327
STKc_aPKC_zetacd056171.5e-0674373
STKc_aPKC_iotacd056182.9e-0674373
STKc_nPKC_deltacd056200.0001274368
STKc_GRK3cd056332.6e-0674328
STKc_MEKK4cd066262.1e-1574361
STKc_MEKK1_plantcd066324.8e-1574361
STKc_Rim15_likecd056116.4e-05103351
Pkinasepfam000692.4e-6868361
Pkinase_Tyrpfam077143.3e-1368317
TyrKcsmart002193.2e-1268360
STYKcsmart002219.1e-7368361
S_TKcsmart002209.2e-7978361
KINDsmart007507.8e-05149369

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs28730804 Polymorphismp.GLY380ASPN/A
Swiss-ProtVAR_069780Diseasep.GLY128VALCardiofaciocutaneous syndrome 3 (CFC3)
Swiss-ProtVAR_035093Diseasep.PHE53SERCardiofaciocutaneous syndrome 3 (CFC3)
Swiss-ProtVAR_035094Diseasep.TYR130CYSCardiofaciocutaneous syndrome 3 (CFC3)
OMIM176872.0003 Diseasep.GLY128VALCARDIOFACIOCUTANEOUS SYNDROME 3
OMIM176872.0001 Diseasep.PHE53SERCARDIOFACIOCUTANEOUS SYNDROME 3
OMIM176872.0002 Diseasep.TYR130CYSCARDIOFACIOCUTANEOUS SYNDROME 3



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