Gene Symbol GRN
Gene ID 2896
Chromosomal Location 17q21.32
Genomic RefSeqGene NG_007886.1 14980 bp
Transcript RefSeq NM_002087.2 2323 bp
Protein RefSeq NP_002078.1 593 aa
No. of mutations 3
No. of sequence variations 0
 No. of changes 3
Additional Notes
Identifier Mutation Location Nucleotide Change Amino Acid Change Type of Mutation Predicted Functional Effect Phenotype Progression Histology No. of families  Country of origin PMID References Patients Notes
grn.001 ? c.813_816del p.(Thr272Serfs_10) Frameshift Probably damaging adult FPP 1 Italy 22608501 Smith et al, 2012 Pa-grn.001, Pa-grn.002 Adult NCL if homozygous; dementia if heterozygous
grn.002 L: Exon 11 c.1477C>T p.(Arg493*) Nonsense adult 1 22608501 Smith et al, 2012 Pa-grn.003 Heterozygous for this mutation. Patient probably has FTLD-TDP not NCL
grn.003 J: Exon 9 c.900_901dupGT p.(Ser301Cysfs*60) Frameshift Adult  1 Portugal 27021778 Almeida et al.  (2016)  Pa-grn-004 Diagnosed NCL in FTLD family
Recommended Mutation nomenclature followed (
Polyphen and/or SIFT used to predict functional effects
C around birth,  infantile (6-18 mo)I, LI late infantile (2-4 yr), vLI (variant late infantile), J Juvenile (5-10 yr), A Adult 
GROD, CL, RL, FP, condensed
See dbSNP for more short genetic variations