Results for the protein: Q9NZN9

Results for the Protein: Q9NZN9

23503042

23746

AIPL1

NCBI, UniProt

AIPL1_HUMAN RecName: Full=Aryl-hydrocarbon-interacting protein-like 1

Known Diseases associated with this Protein:
LEBER CONGENITAL AMAUROSIS 4
LEBER CONGENITAL AMAUROSIS 4 (LCA4)

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Default View: TPR - cd00189	Swiss-Prot Protein: Q9NZN9 Identical to: NP_055151 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067165	Disease	p.ARG270HIS	Leber congenital amaurosis 4 (LCA4)
Swiss-Prot	VAR_067166	Polymorphism	p.ARG302LEU	N/A
dbSNP	rs12449580	Polymorphism	p.ASP90HIS	N/A
Swiss-Prot	VAR_010139	Disease	p.CYS239ARG	Leber congenital amaurosis 4 (LCA4)
dbSNP	rs61757484	Polymorphism	p.PRO376SER	N/A
dbSNP	rs8069375	Polymorphism	p.THR114ILE	N/A
Swiss-Prot	VAR_050627	Polymorphism	p.TYR134PHE	N/A
Swiss-Prot	VAR_050626	Polymorphism	p.VAL33ALA	N/A
OMIM	604392.0003	Disease	p.CYS239ARG	LEBER CONGENITAL AMAUROSIS 4
OMIM	604392.0001	Disease	p.TRP278TER	LEBER CONGENITAL AMAUROSIS 4

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