Antigen Record Ag004190

AgACC	Ag004190
Date	19-08-2008
Last updated	14-12-2016
Antigen Name	PAX3
Full Name	Paired box protein Pax-3
Synonym	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 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 ID	P23760
NCBI Gene ID	5077
GeneCard ID	GC02M222199
SwissProt VARIANT ID	VAR_003795
Comment	Waardenburg 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
Annotation	This is a fragment sequence.
Isoforms	Ag000534, Ag000535, Ag000536, Ag002152, Ag002153, Ag002154, Ag002155 Alignment of all Isoforms
Mutation entries	Ag004184, 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 profile	RNA and protein Expression profile
Predicted HLA binders	Allele: predictions Peptide length:
Reference sequence	NQLGGVFINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVS
Antigen sequence	NQLGGVFINGRPLPNHIRHKFVEMAHHGIRPCVISRQLRVS