Results for the protein: Q9UMX9

Results for the Protein: Q9UMX9

145572854

51151

SLC45A2

NCBI, UniProt

S45A2_HUMAN RecName: Full=Membrane-associated transporter protein; AltName: Full=Melanoma antigen AIM1; Short=Protein AIM-1; AltName: Full=Solute carrier family 45 member 2

Known Diseases associated with this Protein:
ALBINISM, OCULOCUTANEOUS, 4 (OCA4)

13

4

0

0

17

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Default View: MFS - cd06174	Swiss-Prot Protein: Q9UMX9 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_022719	Disease	p.ALA477THR	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022720	Disease	p.ALA486VAL	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_067074	Disease	p.ARG348CYS	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022712	Disease	p.ASP157ASN	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022716	Polymorphism	p.GLU272LYS	N/A
Swiss-Prot	VAR_067072	Disease	p.GLY64SER	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022713	Disease	p.GLY188VAL	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_012162	Polymorphism	p.LEU374PHE	N/A
Swiss-Prot	VAR_022718	Disease	p.LEU361PRO	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_067071	Disease	p.MET42ILE	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022710	Disease	p.PRO58ALA	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022711	Disease	p.PRO58SER	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022721	Polymorphism	p.THR500PRO	N/A
Swiss-Prot	VAR_067073	Disease	p.THR302SER	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022714	Disease	p.TRP202CYS	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022717	Disease	p.TYR317CYS	Albinism, oculocutaneous, 4 (OCA4)
Swiss-Prot	VAR_022722	Polymorphism	p.VAL507LEU	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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