Results for the protein: Q9NQ40

Results for the Protein: Q9NQ40

82654931

113278

SLC52A3

NCBI, UniProt

S52A3_HUMAN RecName: Full=Solute carrier family 52, riboflavin transporter, member 3; AltName: Full=Riboflavin transporter 2; Short=hRFT2

Known Diseases associated with this Protein:
  BROWN-VIALETTO-VAN LAERE SYNDROME 1
  BROWN-VIALETTO-VAN LAERE SYNDROME 1 (BVVLS1)
  BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD

13

12

8

5

12

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Default View: DUF1011 - pfam06237	Swiss-Prot Protein: Q9NQ40 Identical to: NP_212134 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 ↕
dbSNP	rs6054614	Polymorphism	p.ASP174GLY	N/A
dbSNP	rs35655964	Polymorphism	p.ILE74MET	N/A
dbSNP	rs3746802	Polymorphism	p.ILE303VAL	N/A
dbSNP	rs3746804	Polymorphism	p.PRO267LEU	N/A
dbSNP	rs3746803	Polymorphism	p.THR278MET	N/A
Swiss-Prot	VAR_063695	Disease	p.ARG132TRP	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)
Swiss-Prot	VAR_053566	Polymorphism	p.ASP174GLY	N/A
Swiss-Prot	VAR_063694	Disease	p.GLU36LYS	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)
Swiss-Prot	VAR_053565	Polymorphism	p.ILE74MET	N/A
Swiss-Prot	VAR_053569	Polymorphism	p.ILE303VAL	N/A
Swiss-Prot	VAR_063698	Polymorphism	p.LEU350MET	N/A
Swiss-Prot	VAR_063696	Disease	p.PHE224LEU	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)
Swiss-Prot	VAR_063701	Disease	p.PHE457LEU	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)
Swiss-Prot	VAR_053567	Polymorphism	p.PRO267LEU	N/A
Swiss-Prot	VAR_063699	Polymorphism	p.SER411ARG	N/A
Swiss-Prot	VAR_053568	Polymorphism	p.THR278MET	N/A
Swiss-Prot	VAR_063700	Disease	p.VAL413ALA	Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)
OMIM	613350.0003	Disease	p.ARG132TRP	BROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM	613350.0005	Disease	p.GLU36LYS	BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD
OMIM	613350.0002	Disease	p.GLU71TER	BROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM	613350.0004	Disease	p.PHE224LEU	BROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM	613350.0007	Disease	p.PRO28THR	BROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM	613350.0009	Disease	p.TRP17ARG	BROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM	613350.0010	Disease	p.TYR213TER	BROWN-VIALETTO-VAN LAERE SYNDROME 1
OMIM	613350.0006	Disease	p.VAL413ALA	BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD

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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