Results for the protein: Q07837

Results for the Protein: Q07837

67472674

6519

SLC3A1

NCBI, UniProt

SLC31_HUMAN RecName: Full=Neutral and basic amino acid transport protein rBAT; Short=NBAT; AltName: Full=B(0,+)-type amino acid transport protein; AltName: Full=D2h; AltName: Full=Solute carrier family 3 member 1

Known Diseases associated with this Protein:
CYSTINURIA
CYSTINURIA (CSNU)

36

1

8

1

28

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Default View: AmyA - COG0366 Aamy - smart00642 Alpha-amylase - pfam00128	Swiss-Prot Protein: Q07837 Identical to: NP_000332 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Alpha-amylase	pfam00128	3.3e-86	140	490
Aamy	smart00642	3.1e-122	125	523

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_022601	Disease	p.ARG362CYS	Cystinuria (CSNU)
Swiss-Prot	VAR_011421	Disease	p.ARG181GLN	Cystinuria (CSNU)
Swiss-Prot	VAR_038202	Disease	p.ARG362HIS	Cystinuria (CSNU)
Swiss-Prot	VAR_038207	Disease	p.ARG584THR	Cystinuria (CSNU)
Swiss-Prot	VAR_011424	Disease	p.ARG365TRP	Cystinuria (CSNU)
Swiss-Prot	VAR_011425	Disease	p.ARG452TRP	Cystinuria (CSNU)
Swiss-Prot	VAR_038201	Disease	p.ASN253LYS	Cystinuria (CSNU)
Swiss-Prot	VAR_038206	Disease	p.GLN510ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_011422	Disease	p.GLU268LYS	Cystinuria (CSNU)
Swiss-Prot	VAR_038205	Disease	p.GLU482LYS	Cystinuria (CSNU)
Swiss-Prot	VAR_038203	Disease	p.GLY398ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_038209	Disease	p.GLY600GLU	Cystinuria (CSNU)
Swiss-Prot	VAR_038204	Disease	p.GLY481VAL	Cystinuria (CSNU)
Swiss-Prot	VAR_011434	Disease	p.LEU678PRO	Cystinuria (CSNU)
dbSNP	rs698761	Polymorphism	p.MET618ILE	N/A
Swiss-Prot	VAR_011428	Disease	p.MET467LYS	Cystinuria (CSNU)
Swiss-Prot	VAR_011427	Disease	p.MET467THR	Cystinuria (CSNU)
Swiss-Prot	VAR_038208	Disease	p.PHE599SER	Cystinuria (CSNU)
Swiss-Prot	VAR_011432	Disease	p.PHE648SER	Cystinuria (CSNU)
Swiss-Prot	VAR_022602	Disease	p.PRO508ALA	Cystinuria (CSNU)
Swiss-Prot	VAR_011420	Disease	p.PRO128GLN	Cystinuria (CSNU)
Swiss-Prot	VAR_064040	Disease	p.PRO122SER	Cystinuria (CSNU)
Swiss-Prot	VAR_011430	Disease	p.PRO615THR	Cystinuria (CSNU)
Swiss-Prot	VAR_011423	Disease	p.THR341ALA	Cystinuria (CSNU)
Swiss-Prot	VAR_011433	Disease	p.THR652ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_022600	Disease	p.THR216MET	Cystinuria (CSNU)
Swiss-Prot	VAR_038200	Disease	p.TYR151CYS	Cystinuria (CSNU)
Swiss-Prot	VAR_011426	Disease	p.TYR461HIS	Cystinuria (CSNU)
Swiss-Prot	VAR_011429	Disease	p.TYR582HIS	Cystinuria (CSNU)
OMIM	104614.0004	Disease	p.ARG181GLN	CYSTINURIA
OMIM	104614.0008	Disease	p.ARG362HIS	CYSTINURIA
OMIM	104614.0003	Disease	p.LEU678PRO	CYSTINURIA
OMIM	104614.0002	Disease	p.MET467LYS	CYSTINURIA
OMIM	104614.0001	Disease	p.MET467THR	CYSTINURIA
OMIM	104614.0006	Disease	p.PRO615THR	CYSTINURIA
OMIM	104614.0005	Disease	p.THR652ARG	CYSTINURIA
OMIM	104614.0009	Disease	p.TYR533ASN	CYSTINURIA

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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