Results for the protein: Q9HAN9

Results for the Protein: Q9HAN9

30580491

64802

NMNAT1

NCBI, UniProt

NMNA1_HUMAN RecName: Full=Nicotinamide mononucleotide adenylyltransferase 1; Short=NMN adenylyltransferase 1; AltName: Full=Nicotinate-nucleotide adenylyltransferase 1; Short=NaMN adenylyltransferase 1

Known Diseases associated with this Protein:
LEBER CONGENITAL AMAUROSIS 9
LEBER CONGENITAL AMAUROSIS 9 (LCA9)

37

0

9

0

28

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Default View: NadD - COG1057 NMNAT - cd02165	Swiss-Prot Protein: Q9HAN9 Identical to: NP_073624 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NMNAT	cd02165	6e-80	10	254

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068867	Disease	p.ALA147PRO	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068857	Disease	p.ALA13THR	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068861	Disease	p.ALA54VAL	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068878	Disease	p.ARG237CYS	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068879	Disease	p.ARG237LEU	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068876	Disease	p.ARG207TRP	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068862	Disease	p.ARG66TRP	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068883	Disease	p.ASN273ASP	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068872	Disease	p.ASP173GLY	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068859	Disease	p.ASP33GLY	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068882	Disease	p.GLU257LYS	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068871	Disease	p.GLY156ARG	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068881	Disease	p.HIS251PRO	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068858	Disease	p.ILE20ASN	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068877	Disease	p.ILE217ASN	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068875	Disease	p.ILE184MET	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068865	Disease	p.LEU72HIS	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068869	Disease	p.LEU153PRO	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068880	Disease	p.LEU239SER	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068870	Disease	p.LEU153VAL	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068860	Disease	p.MET35THR	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068864	Disease	p.MET69VAL	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068874	Disease	p.TYR181CYS	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068866	Disease	p.VAL98GLY	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068873	Disease	p.VAL178MET	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068856	Disease	p.VAL9MET	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068868	Disease	p.VAL151PHE	Leber congenital amaurosis 9 (LCA9)
Swiss-Prot	VAR_068863	Disease	p.VAL67PHE	Leber congenital amaurosis 9 (LCA9)
OMIM	608700.0007	Disease	p.ARG237LEU	LEBER CONGENITAL AMAUROSIS 9
OMIM	608700.0005	Disease	p.ARG207TRP	LEBER CONGENITAL AMAUROSIS 9
OMIM	608700.0003	Disease	p.ASN273ASP	LEBER CONGENITAL AMAUROSIS 9
OMIM	608700.0002	Disease	p.GLU257LYS	LEBER CONGENITAL AMAUROSIS 9
OMIM	608700.0008	Disease	p.LEU153VAL	LEBER CONGENITAL AMAUROSIS 9
OMIM	608700.0001	Disease	p.TER280GLN	LEBER CONGENITAL AMAUROSIS 9
OMIM	608700.0006	Disease	p.TRP169TER	LEBER CONGENITAL AMAUROSIS 9
OMIM	608700.0009	Disease	p.VAL9MET	LEBER CONGENITAL AMAUROSIS 9
OMIM	608700.0004	Disease	p.VAL151PHE	LEBER CONGENITAL AMAUROSIS 9

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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