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Results for the Protein: Q9HAN9
30580491

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
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NadDCOG10575.7e-246256
NMNATcd021656e-8010254

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068867Diseasep.ALA147PROLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068857Diseasep.ALA13THRLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068861Diseasep.ALA54VALLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068878Diseasep.ARG237CYSLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068879Diseasep.ARG237LEULeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068876Diseasep.ARG207TRPLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068862Diseasep.ARG66TRPLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068883Diseasep.ASN273ASPLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068872Diseasep.ASP173GLYLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068859Diseasep.ASP33GLYLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068882Diseasep.GLU257LYSLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068871Diseasep.GLY156ARGLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068881Diseasep.HIS251PROLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068858Diseasep.ILE20ASNLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068877Diseasep.ILE217ASNLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068875Diseasep.ILE184METLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068865Diseasep.LEU72HISLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068869Diseasep.LEU153PROLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068880Diseasep.LEU239SERLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068870Diseasep.LEU153VALLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068860Diseasep.MET35THRLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068864Diseasep.MET69VALLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068874Diseasep.TYR181CYSLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068866Diseasep.VAL98GLYLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068873Diseasep.VAL178METLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068856Diseasep.VAL9METLeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068868Diseasep.VAL151PHELeber congenital amaurosis 9 (LCA9)
Swiss-ProtVAR_068863Diseasep.VAL67PHELeber congenital amaurosis 9 (LCA9)
OMIM608700.0007 Diseasep.ARG237LEULEBER CONGENITAL AMAUROSIS 9
OMIM608700.0005 Diseasep.ARG207TRPLEBER CONGENITAL AMAUROSIS 9
OMIM608700.0003 Diseasep.ASN273ASPLEBER CONGENITAL AMAUROSIS 9
OMIM608700.0002 Diseasep.GLU257LYSLEBER CONGENITAL AMAUROSIS 9
OMIM608700.0008 Diseasep.LEU153VALLEBER CONGENITAL AMAUROSIS 9
OMIM608700.0001 Diseasep.TER280GLNLEBER CONGENITAL AMAUROSIS 9
OMIM608700.0006 Diseasep.TRP169TERLEBER CONGENITAL AMAUROSIS 9
OMIM608700.0009 Diseasep.VAL9METLEBER CONGENITAL AMAUROSIS 9
OMIM608700.0004 Diseasep.VAL151PHELEBER CONGENITAL AMAUROSIS 9



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