Gene Symbol ATP13A2
Gene ID 23400
Chromosomal Location 1p36
Genomic RefSeqGene NG_009054.1 32971 bp
Transcript RefSeq NM_022089.2 3996 bp
Protein RefSeq NP_071372.1 1180 aa
No. of mutations 1
No. of sequence variations 0
No. of changes 1
Additional notes
Identifier Location Nucleotide change Amino acid change Type of mutation Predicted functional effect Phenotype Histology No. of families  Country of origin PMID Reference Patients Notes
atp13a2.001 W: Exon 22 c.2429T>G p.Met810Arg Missense probably damaging vJNCL/ANCL GROD lamellar structures 1 Belgium 22388936 Bras et al, 2012 Pa-cln12.001-004
Notes
Recommended mutation nomenclature followed (http://www.hgvs.org/rec.html)
Polyphen and/or SIFT used to predict functional effects
C - around birth, I -  infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - variant late infantile, J - juvenile (5-10 yr), A - adult 
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
See dbSNP for more short genetic variations
Mutations in ATP13A2 also cause Kufor-Rakeb syndrome