Gene: granulin; GRN


Gene Symbol: GRN
OMIM: 138945
Chromosome location: 17q21.31

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Frontotemporal lobar degeneration with ubiquitin-positive inclusions || p.Leu271LeufsX10

Phenotype:    Frontotemporal lobar degeneration with ubiquitin-positive inclusions
Dna Change:    p.Leu271LeufsX10
Protein Change:   
Mutation Type:   
Mutation Effect:   
Location:   
Transcript:    NM_002087.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA30 families/32 families20 generations agoBenussi L et al., 2013Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R, . Estimating the age of the most common Italian GRN mutation: walking back to Canossa times.. J. Alzheimers Dis.. 2013; 33(1):69-76

Frontotemporal lobar degeneration with ubiquitin-positive inclusions || c.813_816delCACT

Phenotype:    Frontotemporal lobar degeneration with ubiquitin-positive inclusions
Dna Change:    c.813_816delCACT
Protein Change:    p.Thr272SerfsX10
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 8
Transcript:    NM_002087.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA16 patients/ 14 unrelated familiesbetween 260 and 295 generations agoBorroni B et al., 2011Borroni B, Bonvicini C, Galimberti D, Tremolizzo L, Papetti A, Archetti S, Turla M, Alberici A, Agosti C, Premi E, Appollonio I, Rainero I, Ferrarese C, Gennarelli M, Scarpini E, Padovani A, . Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.. Neurobiol. Aging. 2011; 32(3):555.e1-8

References

Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R, Estimating the age of the most common Italian GRN mutation: walking back to Canossa times.J. Alzheimers Dis.. 2013; 33(1):69-76

Borroni B, Bonvicini C, Galimberti D, Tremolizzo L, Papetti A, Archetti S, Turla M, Alberici A, Agosti C, Premi E, Appollonio I, Rainero I, Ferrarese C, Gennarelli M, Scarpini E, Padovani A, Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.Neurobiol. Aging. 2011; 32(3):555.e1-8