Results for the protein: O76082

Results for the Protein: O76082

8928257

6584

SLC22A5

NCBI, UniProt

S22A5_HUMAN RecName: Full=Solute carrier family 22 member 5; AltName: Full=High-affinity sodium-dependent carnitine cotransporter; AltName: Full=Organic cation/carnitine transporter 2

Known Diseases associated with this Protein:
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
SYSTEMIC PRIMARY CARNITINE DEFICIENCY (CDSP)

62

16

13

2

63

Tips:

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Default View: MFS - cd06174 ProP - COG0477 Sugar_tr - pfam00083 MFS_1 - pfam07690	Swiss-Prot Protein: O76082 Identical to: NP_003051 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ProP	COG0477	3.8e-08	92	516
Sugar_tr	pfam00083	2.5e-08	105	525
MFS_1	pfam07690	1.6e-12	123	478

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064135	Disease	p.ALA301ASP	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064145	Disease	p.ALA442ILE	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064120	Disease	p.ALA142SER	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064130	Polymorphism	p.ALA240THR	N/A
Swiss-Prot	VAR_064125	Disease	p.ALA214VAL	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064150	Disease	p.ARG471CYS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064151	Disease	p.ARG488CYS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_009252	Disease	p.ARG169GLN	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064134	Disease	p.ARG282GLN	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064142	Disease	p.ARG399GLN	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064126	Disease	p.ARG227HIS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_066846	Disease	p.ARG488HIS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064116	Disease	p.ARG83LEU	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064111	Disease	p.ARG19PRO	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_066845	Disease	p.ARG471PRO	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064115	Polymorphism	p.ARG75PRO	N/A
Swiss-Prot	VAR_064122	Disease	p.ARG169TRP	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064132	Disease	p.ARG257TRP	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064143	Disease	p.ARG399TRP	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064112	Disease	p.ASN32SER	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064118	Disease	p.ASP122TYR	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_009256	Disease	p.GLU452LYS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064117	Polymorphism	p.GLY96ALA	N/A
Swiss-Prot	VAR_064129	Disease	p.GLY234ARG	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064109	Disease	p.GLY12SER	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064110	Disease	p.GLY15TRP	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064131	Disease	p.GLY242VAL	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064136	Polymorphism	p.ILE312VAL	N/A
dbSNP	rs10040427	Polymorphism	p.LEU144PHE	N/A
Swiss-Prot	VAR_064124	Disease	p.LEU186PRO	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064152	Disease	p.LEU507SER	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_022564	Disease	p.MET179LEU	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064123	Polymorphism	p.MET177VAL	N/A
Swiss-Prot	VAR_029317	Polymorphism	p.MET530VAL	N/A
Swiss-Prot	VAR_020347	Disease	p.PHE17LEU	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064127	Polymorphism	p.PHE230LEU	N/A
Swiss-Prot	VAR_029316	Polymorphism	p.PHE508LEU	N/A
Swiss-Prot	VAR_064146	Disease	p.PHE443VAL	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064148	Disease	p.PRO455ARG	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064121	Polymorphism	p.PRO143LEU	N/A
Swiss-Prot	VAR_064141	Disease	p.PRO398LEU	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_009257	Disease	p.PRO478LEU	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064113	Disease	p.PRO46SER	Systemic primary carnitine deficiency (CDSP)
dbSNP	rs11568525	Polymorphism	p.PRO549SER	N/A
Swiss-Prot	VAR_066843	Disease	p.SER26ASN	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_022566	Disease	p.SER467CYS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064138	Disease	p.SER355LEU	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064140	Disease	p.SER362LEU	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_066844	Disease	p.SER280PHE	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064133	Disease	p.THR264ARG	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064149	Disease	p.THR468ARG	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064128	Disease	p.THR232MET	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064144	Disease	p.THR440MET	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064114	Polymorphism	p.THR66PRO	N/A
Swiss-Prot	VAR_009254	Disease	p.TRP283ARG	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064137	Disease	p.TRP351ARG	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_022565	Disease	p.TRP283CYS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064139	Polymorphism	p.TYR358ASN	N/A
Swiss-Prot	VAR_029315	Disease	p.TYR449ASP	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_009253	Disease	p.TYR211CYS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064147	Disease	p.TYR447CYS	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_064119	Polymorphism	p.VAL123GLY	N/A
Swiss-Prot	VAR_036816	Polymorphism	p.VAL481ILE	N/A
Swiss-Prot	VAR_009255	Disease	p.VAL446PHE	Systemic primary carnitine deficiency (CDSP)
Swiss-Prot	VAR_020349	Polymorphism	p.VAL481PHE	N/A
OMIM	603377.0021	Disease	p.ALA442ILE	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0013	Disease	p.ARG169GLN	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0016	Disease	p.ARG399GLN	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0019	Disease	p.ARG254TER	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0008	Disease	p.ARG282TER	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0014	Disease	p.ARG169TRP	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0020	Disease	p.ARG399TRP	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0022	Disease	p.GLY15TRP	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0018	Disease	p.MET1ILE	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0011	Disease	p.PRO478LEU	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0015	Disease	p.TRP351ARG	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0012	Disease	p.TYR211CYS	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
OMIM	603377.0009	Disease	p.TYR401TER	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY

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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