Antigen Record Ag004186

AgACCAg004186
Date19-08-2008
Last updated14-12-2016
Antigen NamePAX3
Full NamePaired box protein Pax-3
SynonymPAX3/FKHR fusion; paired box gene 3; paired box gene 3 (Waardenburg syndrome 1); paired box homeotic gene 3; paired box homeotic gene 3 (Waardenburg syndrome 1); paired domain gene 3; paired domain gene HuP2; CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; WS1

another display format
  • PAX3/FKHR fusion
  • paired box gene 3
  • paired box gene 3 (Waardenburg syndrome 1)
  • paired box homeotic gene 3
  • paired box homeotic gene 3 (Waardenburg syndrome 1)
  • paired domain gene 3
  • paired domain gene HuP2
  • CDHS
  • HUP2
  • MGC120381
  • MGC120382
  • MGC120383
  • MGC120384
  • MGC134778
  • WS1
UniProt IDP23760
NCBI Gene ID5077
GeneCard IDGC02M222199
SwissProt VARIANT IDVAR_003792
CommentCraniofacial-deafness-hand syndrome (CDHS) - Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome. CDHS is thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness
AnnotationThis is a fragment sequence.
IsoformsAg000534,  Ag000535,  Ag000536,  Ag002152,  Ag002153,  Ag002154,  Ag002155

Alignment of all Isoforms
Mutation entriesAg004184,  Ag004185,  Ag004186,  Ag004187,  Ag004188,  Ag004189,  Ag004190,  Ag004191,  Ag004192,  Ag004193,  Ag004194,  Ag004195,  Ag004196,  Ag004197,  Ag004198,  Ag004199,  Ag004200,  Ag004201,  Ag004202,  Ag004203,  Ag004204,  Ag004205,  Ag004206,  Ag004207,  Ag004208,  Ag004209,  Ag004210

View mutation map
RNA/protein expression profileRNA and protein Expression profile
Predicted HLA binders
Allele:  predictions
Peptide length:   
Reference sequenceLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGI
Antigen sequenceLEVSTPLGQGRVNQLGGVFIKGRPLPNHIRHKIVEMAHHGI