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Results for the Protein: Q9Y619
20139303

ORNT1_HUMAN RecName: Full=Mitochondrial ornithine transporter 1; AltName: Full=Solute carrier family 25 member 15

Known Diseases associated with this Protein:
  HHH SYNDROME
  HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (HHH SYNDROME)
22
2
8
1
15
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Mito_carr - pfam00153


Swiss-Prot Protein: Q9Y619
Identical to: NP_055067
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Mito_carrpfam001532.8e-20596
Mito_carrpfam001531e-25102202
Mito_carrpfam001531.3e-25205298

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058949Polymorphismp.ALA70LEUN/A
Swiss-ProtVAR_012764Diseasep.ARG275GLNHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_012760Diseasep.GLU180LYSHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_012758Diseasep.GLY27ARGHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_012762Diseasep.GLY190ASPHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_058951Diseasep.GLY113CYSHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_012757Diseasep.GLY27GLUHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_058953Diseasep.GLY216SERHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
dbSNPrs17849654 Polymorphismp.ILE254LEUN/A
Swiss-ProtVAR_058950Diseasep.LEU71GLNHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_058956Diseasep.LEU283PHEHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_058948Diseasep.MET37ARGHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_058955Diseasep.MET273LYSHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_058952Diseasep.PHE188LEUHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_012759Diseasep.PRO126ARGHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-ProtVAR_058954Diseasep.THR272ILEHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
OMIM603861.0005 Diseasep.ARG275GLNHHH SYNDROME
OMIM603861.0003 Diseasep.ARG179TERHHH SYNDROME
OMIM603861.0002 Diseasep.GLU180LYSHHH SYNDROME
OMIM603861.0004 Diseasep.GLY27ARGHHH SYNDROME
OMIM603861.0007 Diseasep.LEU71GLNHHH SYNDROME
OMIM603861.0006 Diseasep.MET37ARGHHH SYNDROME
OMIM603861.0009 Diseasep.THR32ARGHHH SYNDROME
OMIM603861.0008 Diseasep.THR272ILEHHH SYNDROME



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