Results for the protein: Q6Y7W6

Results for the Protein: Q6Y7W6

74710467

26058

GIGYF2

NCBI, UniProt

PERQ2_HUMAN RecName: Full=PERQ amino acid-rich with GYF domain-containing protein 2; AltName: Full=GRB10-interacting GYF protein 2; AltName: Full=Trinucleotide repeat-containing gene 15 protein

Known Diseases associated with this Protein:
PARKINSON DISEASE 11
PARKINSON DISEASE 11 (PARK11)

11

4

5

2

8

Tips:

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Default View: GYF - cd00072 GYF - smart00444 GYF - pfam02213	Swiss-Prot Protein: Q6Y7W6 Identical to: NP_056390, NP_001096616 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GYF	pfam02213	7.9e-24	534	589
GYF	smart00444	2.4e-27	534	589

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_044439	Polymorphism	p.ASN56SER	N/A
Swiss-Prot	VAR_044443	Disease	p.ASN457THR	Parkinson disease 11 (PARK11)
Swiss-Prot	VAR_044445	Disease	p.ASP606GLU	Parkinson disease 11 (PARK11)
Swiss-Prot	VAR_044446	Polymorphism	p.HIS1171ARG	N/A
Swiss-Prot	VAR_044441	Disease	p.ILE278VAL	Parkinson disease 11 (PARK11)
dbSNP	rs34845648	Polymorphism	p.PRO423LEU	N/A
dbSNP	rs2289912	Polymorphism	p.PRO460THR	N/A
Swiss-Prot	VAR_044442	Disease	p.SER335THR	Parkinson disease 11 (PARK11)
Swiss-Prot	VAR_044440	Disease	p.THR112ALA	Parkinson disease 11 (PARK11)
Swiss-Prot	VAR_044449	Disease	p.VAL1242ILE	Parkinson disease 11 (PARK11)
OMIM	612003.0001	Disease	p.ASN56SER	PARKINSON DISEASE 11
OMIM	612003.0002	Disease	p.ASN436THR	PARKINSON DISEASE 11
OMIM	612003.0003	Disease	p.ASP585GLU	PARKINSON DISEASE 11
OMIM	612003.0004	Disease	p.ILE256VAL	PARKINSON DISEASE 11
OMIM	612003.0005	Disease	p.LYS400ARG	PARKINSON DISEASE 11

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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