Results for the protein: Q99259

Results for the Protein: Q99259

1352213

2571

GAD1

NCBI, UniProt

DCE1_HUMAN RecName: Full=Glutamate decarboxylase 1; AltName: Full=67 kDa glutamic acid decarboxylase; Short=GAD-67; AltName: Full=Glutamate decarboxylase 67 kDa isoform

Known Diseases associated with this Protein:
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC 1 (CPSQ1)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1

2

4

1

1

4

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Default View: GadB - COG0076 Pyridoxal_deC - pfam00282 DOPA_deC_like - cd06450 AAT_I - cd01494	Swiss-Prot Protein: Q99259 Identical to: NP_000808 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DOPA_deC_like	cd06450	1.6e-197	187	590
AAT_I	cd01494	8.4e-06	229	419
Pyridoxal_deC	pfam00282	4.8e-224	144	518

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs769402	Polymorphism	p.ARG532GLN	N/A
Swiss-Prot	VAR_018861	Polymorphism	p.ILE228LEU	N/A
Swiss-Prot	VAR_011884	Polymorphism	p.PHE565LEU	N/A
Swiss-Prot	VAR_031021	Disease	p.SER12CYS	Cerebral palsy, spastic quadriplegic 1 (CPSQ1)
Swiss-Prot	VAR_011882	Polymorphism	p.VAL474GLY	N/A
OMIM	605363.0001	Disease	p.SER12CYS	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1

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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