Results for the protein: Q9UJQ4

Results for the Protein: Q9UJQ4

24212387

57167

SALL4

NCBI, UniProt

SALL4_HUMAN RecName: Full=Sal-like protein 4; AltName: Full=Zinc finger protein 797; AltName: Full=Zinc finger protein SALL4

Known Diseases associated with this Protein:
DUANE-RADIAL RAY SYNDROME
DUANE-RADIAL RAY SYNDROME (DRRS)

7

3

6

3

1

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Default View: ZnF_C2H2 - smart00355	Swiss-Prot Protein: Q9UJQ4 Identical to: NP_065169 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnF_C2H2	smart00355	0.00028	410	432
ZnF_C2H2	smart00355	8.2e-06	594	616
ZnF_C2H2	smart00355	1.4e-05	626	648
ZnF_C2H2	smart00355	0.00067	870	892
ZnF_C2H2	smart00355	7e-06	898	920

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61737142	Polymorphism	p.ALA728PRO	N/A
Swiss-Prot	VAR_033054	Disease	p.HIS888ARG	Duane-radial ray syndrome (DRRS)
dbSNP	rs6091375	Polymorphism	p.ILE798LEU	N/A
dbSNP	rs6126344	Polymorphism	p.LEU507ARG	N/A
OMIM	607343.0009	Disease	p.ARG617TER	DUANE-RADIAL RAY SYNDROME
OMIM	607343.0005	Disease	p.ARG865TER	DUANE-RADIAL RAY SYNDROME
OMIM	607343.0011	Disease	p.ARG905TER	DUANE-RADIAL RAY SYNDROME
OMIM	607343.0001	Disease	p.GLN652TER	DUANE-RADIAL RAY SYNDROME
OMIM	607343.0012	Disease	p.HIS888ARG	DUANE-RADIAL RAY SYNDROME
OMIM	607343.0008	Disease	p.LYS175TER	DUANE-RADIAL RAY SYNDROME

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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