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Results for the Protein: P51531
212276472

SMCA2_HUMAN RecName: Full=Probable global transcription activator SNF2L2; AltName: Full=ATP-dependent helicase SMARCA2; AltName: Full=BRG1-associated factor 190B; Short=BAF190B; AltName: Full=Protein brahma homolog; Short=hBRM; AltName: Full=SNF2-alpha; AltName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2

Known Diseases associated with this Protein:
  NICOLAIDES-BARAITSER SYNDROME
  NICOLAIDES-BARAITSER SYNDROME (NCBRS)
42
2
13
1
30
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

QLQ - pfam08880
HepA - COG0553
HSA - pfam07529
HSA - smart00573
BRK - pfam07533
BRK - smart00592
DEXDc - smart00487
ResIII - pfam04851
SNF2_N - pfam00176
DEXDc - cd00046
HDA2-3 - pfam11496
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271
COG5076 - COG5076
Bromodomain_1 - cd05494
Bromo_WDR9_I_like - cd05529
BROMO - smart00297
Bromo_ASH1 - cd05525
Bromo_SNF2L2 - cd05516
Bromo_SNF2 - cd05519
Bromo_polybromo_IV - cd05518
Bromodomain - cd04369
Bromo_polybromo_V - cd05515
Bromo_tif1_like - cd05502
Bromo_Rsc1_2_I - cd05521
Bromo_Acf1_like - cd05504
Bromo_polybromo_II - cd05517
Bromo_polybromo_III - cd05520
Bromodomain - pfam00439
Bromo_Brdt_I_like - cd05497
Bromo_WDR9_II - cd05496
Bromo_polybromo_I - cd05524
Bromo_Rsc1_2_II - cd05522
Bromo_gcn5_like - cd05509
Bromo_cbp_like - cd05495
Bromo_AAA - cd05528
Bromo_BDF1_2_II - cd05499
Bromo_Brdt_II_like - cd05498
Bromo_brd7_like - cd05513
Bromo_TFIID - cd05511
Bromo_BAZ2A_B_like - cd05503
Bromo_BDF1_2_I - cd05500


Swiss-Prot Protein: P51531
Identical to: NP_003061
   Default View:































Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HepACOG05534.5e-1474021223
DEXDccd000464.9e-29743883
HELICccd000794.6e-2910391172
Bromodomain_1cd054948.8e-1813331458
Bromo_WDR9_I_likecd055290.0001413771506
Bromo_ASH1cd055257.9e-0613811504
Bromo_SNF2L2cd055165e-9313821506
Bromodomaincd043693.6e-3013831503
Bromo_polybromo_Vcd055157.9e-3213831505
Bromo_polybromo_IVcd055181.6e-1413831503
Bromo_SNF2cd055191.4e-1913831503
Bromo_tif1_likecd055029.7e-0613951509
Bromo_Acf1_likecd055046.7e-0814051509
Bromo_Rsc1_2_Icd055216.3e-0814051506
Bromo_polybromo_IIcd055179.9e-2414081503
Bromo_polybromo_IIIcd055202e-1614091503
Bromo_WDR9_IIcd054960.000414111508
Bromo_Brdt_I_likecd054970.0003414111509
Bromo_polybromo_Icd055241.8e-1414131511
Bromo_Rsc1_2_IIcd055229e-1014151503
Bromo_gcn5_likecd055094.1e-1014181506
Bromo_cbp_likecd054950.0002214211508
Bromo_BDF1_2_IIcd054992.1e-0614211503
Bromo_AAAcd055280.0004214211518
Bromo_Brdt_II_likecd054989.5e-0614221503
Bromo_brd7_likecd055133.8e-0514221502
Bromo_BAZ2A_B_likecd055038.4e-0514231503
Bromo_TFIIDcd055112.5e-0514231519
Bromo_BDF1_2_Icd055000.000714301502
ResIIIpfam048510.00056721887
SNF2_Npfam001761.7e-1407271020
Helicase_Cpfam002717.6e-2710841164
COG5076COG50760.0008711991589
Bromodomainpfam004393.3e-2714111494
QLQpfam088804.9e-16172208
HSApfam075295.1e-21436508
HSAsmart005736e-30436508
BRKpfam075331.7e-21588632
BRKsmart005923.7e-20590634
DEXDcsmart004872.1e-36716912
HDA2-3pfam114962.2e-059591224
HELICcsmart004903.4e-2410801164
BROMOsmart002972.5e-3613801506

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068204Diseasep.ALA1188PRONicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068205Diseasep.ALA1201VALNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068195Diseasep.ARG1105CYSNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068202Diseasep.ARG1159GLNNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068200Diseasep.ARG1159GLYNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068188Diseasep.ARG855GLYNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068203Diseasep.ARG1162HISNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068201Diseasep.ARG1159LEUNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068196Diseasep.ARG1105PRONicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068208Diseasep.ARG1213TRPNicolaides-Baraitser syndrome (NCBRS)
dbSNPrs2296212 Polymorphismp.ASP1546GLUN/A
Swiss-ProtVAR_068207Diseasep.ASP1205GLYNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068183Diseasep.ASP851HISNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068199Diseasep.ASP1158VALNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068184Diseasep.GLU852ASPNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068185Diseasep.GLU852LYSNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_049501Polymorphismp.GLY1416ALAN/A
Swiss-ProtVAR_068180Diseasep.GLY752ALANicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068189Diseasep.GLY881ARGNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068206Diseasep.GLY1202CYSNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068190Diseasep.GLY881VALNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068187Diseasep.HIS854ARGNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068186Diseasep.HIS854ASNNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068192Diseasep.HIS939TYRNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068193Diseasep.LEU946PHENicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068197Diseasep.LEU1135PRONicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068194Diseasep.LEU946SERNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068181Diseasep.LYS755ARGNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068191Diseasep.PRO883LEUNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068198Diseasep.SER1146ARGNicolaides-Baraitser syndrome (NCBRS)
Swiss-ProtVAR_068182Diseasep.THR756ILENicolaides-Baraitser syndrome (NCBRS)
OMIM600014.0010 Diseasep.ALA1201VALNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0003 Diseasep.ARG1159GLNNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0005 Diseasep.ARG1159GLYNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0007 Diseasep.ARG1162HISNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0008 Diseasep.ARG1159LEUNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0001 Diseasep.ARG1213TRPNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0004 Diseasep.ASP1158VALNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0012 Diseasep.GLY752ALANICOLAIDES-BARAITSER SYNDROME
OMIM600014.0014 Diseasep.GLY1132ASPNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0002 Diseasep.GLY1202CYSNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0006 Diseasep.GLY881VALNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0011 Diseasep.HIS939TYRNICOLAIDES-BARAITSER SYNDROME
OMIM600014.0009 Diseasep.PRO883LEUNICOLAIDES-BARAITSER SYNDROME



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