Antigen Record Ag004204

AgACCAg004204
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_013619
CommentWaardenburg syndrome type 1 (WS1) - Defects in PAX3 are the cause of Waardenburg syndrome type 1. WS1 is an autosomal dominant disorder characterized by wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum), pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma and sensorineural deafness. The syndrome shows variable clinical expression and some affected individuals do not manifest hearing impairment. Waardenburg syndrome type 3 (WS3) - Defects in PAX3 are the cause of Waardenburg syndrome type 3; also known as Klein-Waardenburg syndrome or Waardenburg syndrome with upper limb anomalies or white forelock with malformations. WS3 is a very rare autosomal dominant disorder, which shares many of the characteristics of WS1. Patients additionally present with musculoskeletal abnormalities
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
T cell epitopeEpitope sequencePositionHLA alleleReference
QLMAFNHLI32-41 A*0201  16450380
Predicted HLA binders
Allele:  predictions
Peptide length:   
Reference sequenceEELAQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLI
Antigen sequenceEELAQRAKLTEARVQVWFSNCRARWRKQAGANQLMAFNHLI