Results for the protein: P48029

Results for the Protein: P48029

1352529

6535

SLC6A8

NCBI, UniProt

SC6A8_HUMAN RecName: Full=Sodium- and chloride-dependent creatine transporter 1; Short=CT1; Short=Creatine transporter 1; AltName: Full=Solute carrier family 6 member 8

Known Diseases associated with this Protein:
CEREBRAL CREATINE DEFICIENCY SYNDROME 1
CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (CCDS1)

13

2

6

0

9

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Default View: COG0733 - COG0733 SNF - pfam00209	Swiss-Prot Protein: P48029 Identical to: NP_005620 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SNF	pfam00209		52	583

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063708	Disease	p.CYS337TRP	Cerebral creatine deficiency syndrome 1 (CCDS1)
Swiss-Prot	VAR_063709	Disease	p.CYS491TRP	Cerebral creatine deficiency syndrome 1 (CCDS1)
Swiss-Prot	VAR_020526	Disease	p.GLY381ARG	Cerebral creatine deficiency syndrome 1 (CCDS1)
Swiss-Prot	VAR_020525	Disease	p.GLY87ARG	Cerebral creatine deficiency syndrome 1 (CCDS1)
Swiss-Prot	VAR_063707	Disease	p.GLY132VAL	Cerebral creatine deficiency syndrome 1 (CCDS1)
Swiss-Prot	VAR_063710	Polymorphism	p.MET560VAL	N/A
Swiss-Prot	VAR_020527	Disease	p.PRO390LEU	Cerebral creatine deficiency syndrome 1 (CCDS1)
Swiss-Prot	VAR_020529	Disease	p.PRO554LEU	Cerebral creatine deficiency syndrome 1 (CCDS1)
Swiss-Prot	VAR_034483	Polymorphism	p.THR164SER	N/A
OMIM	300036.0001	Disease	p.ARG514TER	CEREBRAL CREATINE DEFICIENCY SYNDROME 1
OMIM	300036.0007	Disease	p.CYS337TRP	CEREBRAL CREATINE DEFICIENCY SYNDROME 1
OMIM	300036.0009	Disease	p.CYS491TRP	CEREBRAL CREATINE DEFICIENCY SYNDROME 1
OMIM	300036.0002	Disease	p.GLY381ARG	CEREBRAL CREATINE DEFICIENCY SYNDROME 1
OMIM	300036.0005	Disease	p.GLY87ARG	CEREBRAL CREATINE DEFICIENCY SYNDROME 1
OMIM	300036.0008	Disease	p.GLY132VAL	CEREBRAL CREATINE DEFICIENCY SYNDROME 1

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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