PMID: 20142524

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Archives of neurology
CE Yu, TD Bird, LM Bekris, TJ Montine, JB Leverenz, E Steinbart, NM Galloway, H Feldman, R Woltjer, CA Miller, EM Wood, M Grossman, L McCluskey, CM Clark, M Neumann, A Danek, DR Galasko, SE Arnold, A Chen-Plotkin, A Karydas, BL Miller, JQ Trojanowski, VM Lee, GD Schellenberg, VM Van Deerlin
2010-02

40 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-42429772-C-T GRN c.1477C>T p.Arg493* Nonsense 12/13 -
17-42428993-C-T GRN c.1009C>T p.Gln337* Nonsense 10/13 -
21-44479005-G-A CBS c.1297C>T p.His433Tyr Missense 14/17 -
17-42426814-G-A GRN c.159G>A p.Leu53Leu Synonymous 3/13 -
X-47063064-G-C UBA1 c.1544G>C p.Arg515Pro Missense 14/26 -
17-42428403-A-G GRN c.709-2A>G - IntronicSNV - 7/12
17-42426631-C-T GRN c.99C>T p.Asp33Asp Synonymous 2/13 -
17-42428509-TCACT-T GRN c.813_816delCACT p.Thr272Serfs*10 Frameshift 8/13 -
1-241680541-C-T FH c.208G>A p.Ala70Thr Missense 2/10 -
X-47060950-C-G UBA1 c.752C>G p.Ser251* Nonsense 8/26 -
1-241663875-G-A FH c.1252C>T p.His418Tyr Missense 9/10 -
17-42428523-C-T GRN c.827C>T p.Ala276Val Missense 8/13 -
17-42429500-CG-AC GRN c.1297_1298delCGinsAC p.Arg433Thr Missense 11/13 -
17-42427939-CAG-C GRN c.592_593delAG p.Arg198Glyfs*19 Frameshift 6/13 -
1-241672007-G-A FH c.634C>T p.Gln212* Nonsense 5/10 -
X-153453375-G-A OPN1MW c.229G>A p.Ala77Thr Missense 2/6 -
17-42428798-G-A GRN c.903G>A p.Ser301Ser Synonymous 9/13 -
X-153461506-C-G OPN1MW c.1070C>G p.Ser357Cys Missense 6/6 -
17-42426921-T-C GRN c.264+2T>C - IntronicSNV - 3/12
17-42429042-G-A GRN c.1058G>A p.Ser353Asn Missense 10/13 -
X-153457276-CAC-C OPN1MW c.676_677delAC p.Thr226Leufs*31 Frameshift 4/6 -
17-42428788-G-A GRN c.893G>A p.Arg298His Missense 9/13 -
17-42427098-C-T GRN c.328C>T p.Arg110* Nonsense 4/13 -
17-42427892-C-T GRN c.545C>T p.Thr182Met Missense 6/13 -
17-42427118-A-C GRN c.348A>C p.Ser116Ser Synonymous 4/13 -
17-42429605-C-T GRN c.1402C>T p.Gln468* Nonsense 11/13 -
X-153448256-C-CCTGC OPN1MW c.90_91insCTGC p.Thr31Leufs*70 Frameshift 1/6 -
17-42426558-C-A GRN c.26C>A p.Ala9Asp Missense 2/13 -
X-47062427-ACA-A UBA1 c.1319_1320delCA p.Thr440Argfs*12 Frameshift 12/26 -
17-42429707-A-G GRN c.1414-2A>G - IntronicSNV - 11/12
17-42428806-G-A GRN c.911G>A p.Trp304* Nonsense 9/13 -
17-42429141-G-A GRN c.1157G>A p.Trp386* Nonsense 10/13 -
17-43227527-G-A HEXIM1 c.970G>A p.Glu324Lys Missense 1/1 -
X-47058732-CC-C UBA1 c.301delC p.Leu101Tyrfs*106 Frameshift 4/26 -
17-42426587-C-T GRN c.55C>T p.Arg19Trp Missense 2/13 -
17-42429165-T-C GRN c.1179+2T>C - IntronicSNV - 10/12
17-42429839-G-C GRN c.1544G>C p.Gly515Ala Missense 12/13 -
17-42427117-C-A GRN c.347C>A p.Ser116* Nonsense 4/13 -
14-50081080-AACTA-A LRR1 c.389_392delACTA p.Asn130Thrfs*44 Frameshift 3/3 -
21-44479049-C-T CBS c.1253G>A p.Gly418Asp Missense 14/17 -