Results for the protein: P54219

Results for the Protein: P54219

1722741

6570

SLC18A1

NCBI, UniProt

VMAT1_HUMAN RecName: Full=Chromaffin granule amine transporter; AltName: Full=Solute carrier family 18 member 1; AltName: Full=Vesicular amine transporter 1; Short=VAT1

			0 13 0 6 7

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Default View: ProP - COG0477 MFS - cd06174 MFS_1 - pfam07690 AraJ - COG2814	Swiss-Prot Protein: P54219 Identical to: NP_003044, NP_001129163 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MFS	cd06174	3.1e-46	94	479
AraJ	COG2814	8.2e-09	104	487
MFS_1	pfam07690	8e-33	97	445

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17222218	Polymorphism	p.ALA101PRO	N/A
Swiss-Prot	VAR_024632	Polymorphism	p.ALA74VAL	N/A
Swiss-Prot	VAR_052002	Polymorphism	p.ARG11GLN	N/A
Swiss-Prot	VAR_029150	Polymorphism	p.GLY140ARG	N/A
Swiss-Prot	VAR_024635	Polymorphism	p.ILE164MET	N/A
dbSNP	rs1390938	Polymorphism	p.ILE136THR	N/A
Swiss-Prot	VAR_029151	Polymorphism	p.ILE202THR	N/A
dbSNP	rs17092104	Polymorphism	p.LEU392VAL	N/A
Swiss-Prot	VAR_029149	Polymorphism	p.PHE82CYS	N/A
dbSNP	rs17215801	Polymorphism	p.PHE84SER	N/A
dbSNP	rs2270637	Polymorphism	p.SER98THR	N/A
dbSNP	rs2270641	Polymorphism	p.THR4PRO	N/A
Swiss-Prot	VAR_024636	Polymorphism	p.VAL249ILE	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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