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Results for the Protein: P60709
46397333
60

ACTB_HUMAN RecName: Full=Actin, cytoplasmic 1; AltName: Full=Beta-actin; Contains: RecName: Full=Actin, cytoplasmic 1, N-terminally processed

Known Diseases associated with this Protein:
  BARAITSER-WINTER SYNDROME 1
  BARAITSER-WINTER SYNDROME 1 (BRWS1)
  BARAITSER-WINTER SYNDROME 1, ATYPICAL
  DYSTONIA, JUVENILE-ONSET
  DYSTONIA, JUVENILE-ONSET (DYTJ)
11
1
6
0
6
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Default View:

COG5277 - COG5277
Actin - pfam00022
ACTIN - smart00268
NBD_sugar-kinase_HSP - cd00012


Swiss-Prot Protein: P60709
Identical to: NP_001092
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NBD_sugar-kinase_HSPcd000122.3e-2447373
COG5277COG52777.7e-1771375
Actinpfam000228.1e-2433375
ACTINsmart002687.1e-2335375

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067812Diseasep.ARG196CYSBaraitser-Winter syndrome 1 (BRWS1)
Swiss-ProtVAR_067813Diseasep.ARG196HISBaraitser-Winter syndrome 1 (BRWS1)
Swiss-ProtVAR_030026Diseasep.ARG183TRPDystonia, juvenile-onset (DYTJ)
Swiss-ProtVAR_067810Diseasep.ASN12ASPBaraitser-Winter syndrome 1 (BRWS1)
Swiss-ProtVAR_067811Diseasep.LEU65VALBaraitser-Winter syndrome 1 (BRWS1)
Swiss-ProtVAR_048185Polymorphismp.PRO243LEUN/A
OMIM102630.0003 Diseasep.ARG196CYSBARAITSER-WINTER SYNDROME 1
OMIM102630.0002 Diseasep.ARG196HISBARAITSER-WINTER SYNDROME 1
OMIM102630.0001 Diseasep.ARG183TRPDYSTONIA, JUVENILE-ONSET
OMIM102630.0005 Diseasep.ASN12ASPBARAITSER-WINTER SYNDROME 1
OMIM102630.0006 Diseasep.GLU117LYSBARAITSER-WINTER SYNDROME 1, ATYPICAL
OMIM102630.0004 Diseasep.LEU65VALBARAITSER-WINTER SYNDROME 1



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