Results for the protein: Q13183

Results for the Protein: Q13183

2499523

9058

SLC13A2

NCBI, UniProt

S13A2_HUMAN RecName: Full=Solute carrier family 13 member 2; AltName: Full=Na(+)/dicarboxylate cotransporter 1; Short=NaDC-1; AltName: Full=Renal sodium/dicarboxylate cotransporter

			0 7 0 1 6

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Default View: CitT - COG0471 Na_sulph_symp - pfam00939 SLC13_permease - cd01115 CitMHS - pfam03600 ArsB_NhaD_permease - cd00625	Swiss-Prot Protein: Q13183 Identical to: NP_003975 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SLC13_permease	cd01115	4.2e-236	39	559
ArsB_NhaD_permease	cd00625	1.6e-145	46	555
Na_sulph_symp	pfam00939		6	565
CitMHS	pfam03600	0.00048	40	509

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_029256	Polymorphism	p.ALA310PRO	N/A
dbSNP	rs11567842	Polymorphism	p.ILE550VAL	N/A
Swiss-Prot	VAR_029254	Polymorphism	p.LEU44PHE	N/A
Swiss-Prot	VAR_052000	Polymorphism	p.MET45LEU	N/A
Swiss-Prot	VAR_029255	Polymorphism	p.PHE254LEU	N/A
Swiss-Prot	VAR_020399	Polymorphism	p.PRO385SER	N/A
Swiss-Prot	VAR_029257	Polymorphism	p.VAL477MET	N/A

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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