Results for the protein: P24394

Results for the Protein: P24394

124335

3566

IL4R

NCBI, UniProt

IL4RA_HUMAN RecName: Full=Interleukin-4 receptor subunit alpha; Short=IL-4 receptor subunit alpha; Short=IL-4R subunit alpha; Short=IL-4R-alpha; Short=IL-4RA; AltName: CD_antigen=CD124; Contains: RecName: Full=Soluble interleukin-4 receptor subunit alpha; Short=Soluble IL-4 receptor subunit alpha; Short=Soluble IL-4R-alpha; Short=sIL4Ralpha/prot; AltName: Full=IL-4-binding protein; Short=IL4-BP; Flags: Precursor

Known Diseases associated with this Protein:
  ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO, INCLUDED
  ASTHMA, ATOPIC
  ASTHMA, SUSCEPTIBILITY TO
  ATOPY, RESISTANCE TO
  ATOPY, SUSCEPTIBILITY TO

3

15

3

10

5

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Default View: IL4Ra_N - pfam09238 FN3 - cd00063	Swiss-Prot Protein: P24394 Identical to: NP_000409 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IL4Ra_N	pfam09238	3.3e-63	27	121

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35606110	Polymorphism	p.ALA492THR	N/A
Swiss-Prot	VAR_049165	Polymorphism	p.ALA492VAL	N/A
dbSNP	rs1805012	Polymorphism	p.CYS431ARG	N/A
dbSNP	rs1801275	Polymorphism	p.GLN576ARG	N/A
dbSNP	rs1805011	Polymorphism	p.GLU400ALA	N/A
dbSNP	rs1805010	Polymorphism	p.ILE75LEU	N/A
Swiss-Prot	VAR_059302	Polymorphism	p.ILE75PHE	N/A
Swiss-Prot	VAR_008034	Polymorphism	p.ILE75VAL	N/A
Swiss-Prot	VAR_020000	Polymorphism	p.PRO675SER	N/A
dbSNP	rs1805016	Polymorphism	p.SER752ALA	N/A
Swiss-Prot	VAR_019999	Polymorphism	p.SER387LEU	N/A
dbSNP	rs1805013	Polymorphism	p.SER436LEU	N/A
dbSNP	rs1805015	Polymorphism	p.SER503PRO	N/A
dbSNP	rs1805014	Polymorphism	p.SER786PRO	N/A
dbSNP	rs3024677	Polymorphism	p.VAL579ILE	N/A
OMIM	147781.0001	Disease	p.GLN576ARG	ATOPY, SUSCEPTIBILITY TO
OMIM	147781.0002	Disease	p.ILE50VAL	ASTHMA, ATOPIC\|\|ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO, INCLUDED
OMIM	147781.0003	Disease	p.SER503PRO	ATOPY, RESISTANCE TO\|\|ASTHMA, SUSCEPTIBILITY TO

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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