Results for the protein: Q92911

Results for the Protein: Q92911

12643359

6528

SLC5A5

NCBI, UniProt

SC5A5_HUMAN RecName: Full=Sodium/iodide cotransporter; Short=Na(+)/I(-) cotransporter; AltName: Full=Sodium-iodide symporter; Short=Na(+)/I(-) symporter; AltName: Full=Solute carrier family 5 member 5

Known Diseases associated with this Protein:
THYROID DYSHORMONOGENESIS 1
THYROID DYSHORMONOGENESIS 1 (TDH1)

12

4

7

0

9

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Default View:	Swiss-Prot Protein: Q92911 Identical to: NP_000444 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010264	Polymorphism	p.ALA102PRO	N/A
Swiss-Prot	VAR_052490	Polymorphism	p.CYS298GLY	N/A
Swiss-Prot	VAR_010265	Disease	p.GLN267GLU	Thyroid dyshormonogenesis 1 (TDH1)
Swiss-Prot	VAR_010267	Disease	p.GLY395ARG	Thyroid dyshormonogenesis 1 (TDH1)
Swiss-Prot	VAR_010263	Disease	p.GLY93ARG	Thyroid dyshormonogenesis 1 (TDH1)
Swiss-Prot	VAR_010269	Disease	p.GLY543GLU	Thyroid dyshormonogenesis 1 (TDH1)
Swiss-Prot	VAR_010270	Polymorphism	p.SER556GLN	N/A
Swiss-Prot	VAR_010268	Polymorphism	p.THR536GLN	N/A
Swiss-Prot	VAR_010266	Disease	p.THR354PRO	Thyroid dyshormonogenesis 1 (TDH1)
OMIM	601843.0002	Disease	p.CYS272TER	THYROID DYSHORMONOGENESIS 1
OMIM	601843.0003	Disease	p.GLN267GLU	THYROID DYSHORMONOGENESIS 1
OMIM	601843.0007	Disease	p.GLY395ARG	THYROID DYSHORMONOGENESIS 1
OMIM	601843.0005	Disease	p.GLY93ARG	THYROID DYSHORMONOGENESIS 1
OMIM	601843.0006	Disease	p.GLY543GLU	THYROID DYSHORMONOGENESIS 1
OMIM	601843.0001	Disease	p.THR354PRO	THYROID DYSHORMONOGENESIS 1
OMIM	601843.0004	Disease	p.TYR531TER	THYROID DYSHORMONOGENESIS 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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