Results for the protein: Q9Y619

Results for the Protein: Q9Y619

20139303

10166

SLC25A15

NCBI, UniProt

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

Tips:

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Default View: Mito_carr - pfam00153	Swiss-Prot Protein: Q9Y619 Identical to: NP_055067 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Mito_carr	pfam00153	1e-25	102	202
Mito_carr	pfam00153	1.3e-25	205	298

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058949	Polymorphism	p.ALA70LEU	N/A
Swiss-Prot	VAR_012764	Disease	p.ARG275GLN	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_012760	Disease	p.GLU180LYS	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_012758	Disease	p.GLY27ARG	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_012762	Disease	p.GLY190ASP	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_058951	Disease	p.GLY113CYS	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_012757	Disease	p.GLY27GLU	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_058953	Disease	p.GLY216SER	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
dbSNP	rs17849654	Polymorphism	p.ILE254LEU	N/A
Swiss-Prot	VAR_058950	Disease	p.LEU71GLN	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_058956	Disease	p.LEU283PHE	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_058948	Disease	p.MET37ARG	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_058955	Disease	p.MET273LYS	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_058952	Disease	p.PHE188LEU	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_012759	Disease	p.PRO126ARG	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
Swiss-Prot	VAR_058954	Disease	p.THR272ILE	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)
OMIM	603861.0005	Disease	p.ARG275GLN	HHH SYNDROME
OMIM	603861.0003	Disease	p.ARG179TER	HHH SYNDROME
OMIM	603861.0002	Disease	p.GLU180LYS	HHH SYNDROME
OMIM	603861.0004	Disease	p.GLY27ARG	HHH SYNDROME
OMIM	603861.0007	Disease	p.LEU71GLN	HHH SYNDROME
OMIM	603861.0006	Disease	p.MET37ARG	HHH SYNDROME
OMIM	603861.0009	Disease	p.THR32ARG	HHH SYNDROME
OMIM	603861.0008	Disease	p.THR272ILE	HHH SYNDROME

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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