Results for the protein: Q6P5W5

Results for the Protein: Q6P5W5

296452970

55630

SLC39A4

NCBI, UniProt

S39A4_HUMAN RecName: Full=Zinc transporter ZIP4; AltName: Full=Solute carrier family 39 member 4; AltName: Full=Zrt- and Irt-like protein 4; Short=ZIP-4; Flags: Precursor

Known Diseases associated with this Protein:
ACRODERMATITIS ENTEROPATHICA
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (AEZ)

16

13

7

7

15

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Default View: COG0428 - COG0428 Zip - pfam02535	Swiss-Prot Protein: Q6P5W5 Identical to: NP_570901 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Zip	pfam02535	2.3e-56	324	639

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_060487	Polymorphism	p.ALA22GLU	N/A
dbSNP	rs17855765	Polymorphism	p.ALA114THR	N/A
dbSNP	rs2280838	Polymorphism	p.ALA58THR	N/A
Swiss-Prot	VAR_023629	Disease	p.ARG95CYS	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
dbSNP	rs2977838	Polymorphism	p.ARG251TRP	N/A
Swiss-Prot	VAR_023630	Disease	p.ASN106LYS	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-Prot	VAR_023635	Polymorphism	p.CYS309TYR	N/A
Swiss-Prot	VAR_023634	Disease	p.GLN303HIS	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
dbSNP	rs7823979	Polymorphism	p.GLU284LYS	N/A
Swiss-Prot	VAR_023639	Disease	p.GLY374ARG	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-Prot	VAR_023641	Disease	p.GLY526ARG	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-Prot	VAR_023642	Disease	p.GLY630ARG	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-Prot	VAR_023636	Disease	p.GLY330ASP	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-Prot	VAR_023638	Disease	p.LEU372PRO	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-Prot	VAR_023640	Polymorphism	p.LEU410PRO	N/A
dbSNP	rs1871534	Polymorphism	p.LEU372VAL	N/A
Swiss-Prot	VAR_060488	Polymorphism	p.LEU378VAL	N/A
Swiss-Prot	VAR_023632	Disease	p.PRO200LEU	Acrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-Prot	VAR_023628	Polymorphism	p.PRO84LEU	N/A
dbSNP	rs2272662	Polymorphism	p.THR357ALA	N/A
dbSNP	rs75920625	Polymorphism	p.THR381ALA	N/A
Swiss-Prot	VAR_057481	Polymorphism	p.THR158MET	N/A
OMIM	607059.0011	Disease	p.ARG95CYS	ACRODERMATITIS ENTEROPATHICA
OMIM	607059.0007	Disease	p.ASN106LYS	ACRODERMATITIS ENTEROPATHICA
OMIM	607059.0012	Disease	p.GLN303HIS	ACRODERMATITIS ENTEROPATHICA
OMIM	607059.0006	Disease	p.GLY374ARG	ACRODERMATITIS ENTEROPATHICA
OMIM	607059.0005	Disease	p.GLY526ARG	ACRODERMATITIS ENTEROPATHICA
OMIM	607059.0009	Disease	p.GLY330ASP	ACRODERMATITIS ENTEROPATHICA
OMIM	607059.0004	Disease	p.PRO200LEU	ACRODERMATITIS ENTEROPATHICA

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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