Results for the protein: Q9Y345

Results for the Protein: Q9Y345

296452967

9152

SLC6A5

NCBI, UniProt

SC6A5_HUMAN RecName: Full=Sodium- and chloride-dependent glycine transporter 2; Short=GlyT-2; Short=GlyT2; AltName: Full=Solute carrier family 6 member 5

Known Diseases associated with this Protein:
  HYPEREKPLEXIA 3 (HKPX3)
  HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT
  HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE

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Default View: COG0733 - COG0733 SNF - pfam00209	Swiss-Prot Protein: Q9Y345 Identical to: NP_004202 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SNF	pfam00209	3.4e-299	191	740

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_044163	Polymorphism	p.ALA89GLU	N/A
dbSNP	rs34243519	Polymorphism	p.ALA132GLY	N/A
Swiss-Prot	VAR_044167	Polymorphism	p.ALA162GLY	N/A
dbSNP	rs61736604	Polymorphism	p.ASN116SER	N/A
Swiss-Prot	VAR_044174	Disease	p.ASN509SER	Hyperekplexia 3 (HKPX3)
dbSNP	rs1805091	Polymorphism	p.ASP463ASN	N/A
Swiss-Prot	VAR_011591	Polymorphism	p.GLN184ARG	N/A
dbSNP	rs16906628	Polymorphism	p.GLY767ARG	N/A
dbSNP	rs1443547	Polymorphism	p.GLY102SER	N/A
Swiss-Prot	VAR_044168	Disease	p.LEU306VAL	Hyperekplexia 3 (HKPX3)
dbSNP	rs3740870	Polymorphism	p.LYS457ASN	N/A
dbSNP	rs1443548	Polymorphism	p.PHE124SER	N/A
Swiss-Prot	VAR_044175	Disease	p.SER510ARG	Hyperekplexia 3 (HKPX3)
dbSNP	rs61736603	Polymorphism	p.THR167LYS	N/A
Swiss-Prot	VAR_044169	Disease	p.THR425MET	Hyperekplexia 3 (HKPX3)
Swiss-Prot	VAR_044171	Disease	p.TRP482CYS	Hyperekplexia 3 (HKPX3)
Swiss-Prot	VAR_044172	Disease	p.TYR491CYS	Hyperekplexia 3 (HKPX3)
dbSNP	rs7944684	Polymorphism	p.TYR499PHE	N/A
Swiss-Prot	VAR_011593	Polymorphism	p.VAL751ALA	N/A
Swiss-Prot	VAR_036160	Polymorphism	p.VAL632GLU	N/A
OMIM	604159.0006	Disease	p.ASN509SER	HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE
OMIM	604159.0004	Disease	p.GLN630TER	HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE
OMIM	604159.0005	Disease	p.LEU306VAL	HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE
OMIM	604159.0008	Disease	p.SER510ARG	HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT
OMIM	604159.0007	Disease	p.THR425MET	HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE
OMIM	604159.0003	Disease	p.TYR491CYS	HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE
OMIM	604159.0001	Disease	p.TYR377TER	HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE
OMIM	604159.0002	Disease	p.VAL432PHE	HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE

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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