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UniProtKB/Swiss-Prot Q6Y7W6: Variant p.Asn56Ser

GRB10-interacting GYF protein 2
Gene: GIGYF2
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Variant information Variant position: help 56
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Serine (S) at position 56 (N56S, p.Asn56Ser).
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S)
BLOSUM score: help 1
Variant description: help Probable risk factor for PARK11.
Other resources: help


Sequence information Variant position: help 56
Protein sequence length: help 1299
Location on the sequence: help YKLADYRYGREEMLALFLKD N KIPSDLLDKEFLPILQEEPL
Residue conservation: help 
Human                         YKLADYRYGREEMLALFLKDNKIPSDLLDKEFLPILQEEPL

Mouse                         YKLADYRYGREEMLALFLKDYKIPFDLLEKEFLPILQEEPL

Xenopus laevis                YKLADFRYGREEMLALYVKDNKVPSDLLDKEFLPILNDEPL

Zebrafish                     YKLADYRYGREEMLALYVKDNMIPVDLHDKEFLPILQEEPL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 1299 GRB10-interacting GYF protein 2



Literature citations
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.
Lautier C.; Goldwurm S.; Duerr A.; Giovannone B.; Tsiaras W.G.; Pezzoli G.; Brice A.; Smith R.J.;
Am. J. Hum. Genet. 82:822-833(2008)
Cited for: VARIANTS PARK11 ALA-112; VAL-278; THR-335; THR-457; GLU-606 AND ILE-1242; VARIANTS SER-56; THR-460; ARG-1171; GLN-1211 DEL AND GLN-1212 INS; GIGYF2 Asn56Ser mutation is rare in Chinese Parkinson's disease patients.
Zhang Y.; Zheng L.; Zhang T.; Wang Y.; Xiao Q.; Fei Q.Z.; Cui P.J.; Cao L.; Chen S.D.;
Neurosci. Lett. 463:172-175(2009)
Cited for: VARIANT SER-56; Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.
Guella I.; Pistocchi A.; Asselta R.; Rimoldi V.; Ghilardi A.; Sironi F.; Trotta L.; Primignani P.; Zini M.; Zecchinelli A.; Coviello D.; Pezzoli G.; Del Giacco L.; Duga S.; Goldwurm S.;
Neurobiol. Aging 32:1994-2005(2011)
Cited for: VARIANTS SER-56; VAL-560; VAL-1131 AND ARG-1171; VARIANTS PARK11 CYS-273; GLU-349; THR-457 AND PRO-1209;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.