The Lafora Progressive Myoclonus Epilepsy
Mutation and Polymorphism Database

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To view all mutation entries in the database: click here.

Click on individual exons for mutations below:

• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=C1&fcomp==&fkwd=exon%201&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=C1&fcomp==&fkwd=exon%202&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=C1&fcomp==&fkwd=exon%203&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=C1&fcomp==&fkwd=exon%204&keyword=&show=Table
• data/
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0002&keyword=&show=Table
C; F5S (c.TTT>TCT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0003&keyword=&show=Table
G; F5C (c.TTT>TGT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0004&keyword=&show=Table
C; G6R">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0005&keyword=&show=Table
C; V7A">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0006&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0007&keyword=&show=Table
A; G24E">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0008&keyword=&show=Table
C; S25P (c.TCG>CCG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0009&keyword=&show=Table
A; E28K (c.GAG>AAG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0010&keyword=&show=Table
G; L29V">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0011&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0012&keyword=&show=Table
G; W32G (c.TGG>GGG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0013&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0014&keyword=&show=Table
T; W32L">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0015&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0016&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0017&keyword=&show=Table
A; A37D">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0018&keyword=&show=Table
C; A46P">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0020&keyword=&show=Table
C; A53A (c.GCG>GCC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0021&keyword=&show=Table
T; Q55X">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0022&keyword=&show=Table
A; Q55K (c.CAG>AAG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0023&keyword=&show=Table
T; E56*">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0024&keyword=&show=Table
A; E56K">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0025&keyword=&show=Table
A; W60X">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0026&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0027&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0028&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0029&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0030&keyword=&show=Table
G; F84L (c.TTC>TTG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0031&keyword=&show=Table
G; Y86C">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0032&keyword=&show=Table
G; Y86X">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0033&keyword=&show=Table
G; Y86D">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0034&keyword=&show=Table
T; K87*">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0035&keyword=&show=Table
C; K87T">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0036&keyword=&show=Table
C; F88L (c.TTC>CTC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0037&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0038&keyword=&show=Table
C; R91P (c.CGG>CCG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0039&keyword=&show=Table
G; L97R">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0040&keyword=&show=Table
C; E100Q">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0049&keyword=&show=Table
T; R108C (c.CGT>TGT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0051&keyword=&show=Table
T; R108L">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0052&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0053&keyword=&show=Table
A; Y112*">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0054&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0055&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0056&keyword=&show=Table
C; I126T">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0057&keyword=&show=Table
A; G134G (c.GGG>GGA)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0058&keyword=&show=Table
T; E138X">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0059&keyword=&show=Table
C; K140N">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0060&keyword=&show=Table
T; N148Y">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0061&keyword=&show=Table
G; S158*">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0062&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0064&keyword=&show=Table
G; N163D">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0065&keyword=&show=Table
G; I164S">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0066&keyword=&show=Table
A; W165X">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0067&keyword=&show=Table
A; R171H (c.CGT>CAT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0068&keyword=&show=Table
C; L180P">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0069&keyword=&show=Table
G; T187A (c.ACA>GCA)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0070&keyword=&show=Table
G; A188G">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0071&keyword=&show=Table
C ; M190T">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0072&keyword=&show=Table
T; T194I (c.ACT>ATT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0073&keyword=&show=Table
T; D197V">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0074&keyword=&show=Table
A; E210K">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0075&keyword=&show=Table
T; P211L">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0076&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0077&keyword=&show=Table
A; L220Q">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0078&keyword=&show=Table
A; G240S (c.GGC>AGC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0080&keyword=&show=Table
A; R241Q">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0081&keyword=&show=Table
T; R241X">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0082&keyword=&show=Table
G; P246P">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0083&keyword=&show=Table
G; P246A">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0084&keyword=&show=Table
T; Q247*">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0085&keyword=&show=Table
T; V249L">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0086&keyword=&show=Table
CATGCA; H253fs">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0087&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0088&keyword=&show=Table
C; C266S">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0089&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0090&keyword=&show=Table
A; A268T">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0091&keyword=&show=Table
T; R272C">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0092&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0093&keyword=&show=Table
A; C278X">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0094&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0095&keyword=&show=Table
A; G279S (c.GGC>AGC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0096&keyword=&show=Table
T; G279C (c.GGC>TGC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0097&keyword=&show=Table
A; W287*">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0098&keyword=&show=Table
T; Q293L (c.CAG>CTG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0099&keyword=&show=Table
A; Y294N (c.TAT>AAT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0100&keyword=&show=Table
T; P301L (c.CCG>CTG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0101&keyword=&show=Table
G; L310W">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0102&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0103&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0104&keyword=&show=Table
G; F321C">
• cgi-bin/tbrowse?source=lafora&table=EPM2A&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0105&keyword=&show=Table
C; F321S">

• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&filter=&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0107&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0108&keyword=&show=Table
C; S22R">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0109&keyword=&show=Table
A; C26S (c.TGC>AGC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0110&keyword=&show=Table
A; C26X">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0111&keyword=&show=Table
C; F33S (c.TTT>TCT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0112&keyword=&show=Table
A; R40H">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0113&keyword=&show=Table
A; C46Y">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0114&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0115&keyword=&show=Table
G; V55G">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0116&keyword=&show=Table
C; E67Q (c.GAG>CAG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0117&keyword=&show=Table
T; E67X">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0118&keyword=&show=Table
A; C68Y (c.TGC>TAC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0119&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0120&keyword=&show=Table
G; P69A (c.CCA>GCA)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0121&keyword=&show=Table
T; P69S">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0122&keyword=&show=Table
C; D82H">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0123&keyword=&show=Table
C; L87P (c.CTG>CCG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0124&keyword=&show=Table
A; E91K">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0125&keyword=&show=Table
T; P101P ">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0126&keyword=&show=Table
C; H104H (c.CAT>CAC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0127&keyword=&show=Table
T; P111L (c.CCC>CTC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0128&keyword=&show=Table
G; G112G">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0129&keyword=&show=Table
A; C116*">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0130&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0131&keyword=&show=Table
A; G121S">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0132&keyword=&show=Table
C; G124G (c.GGG>GGC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0133&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0134&keyword=&show=Table
C; L126P">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0135&keyword=&show=Table
A; P129H">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0137&keyword=&show=Table
A; D146N (c.GAC>AAC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0138&keyword=&show=Table
T; D146V">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0139&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0140&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0141&keyword=&show=Table
G; I153M (c.ATT>ATG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0142&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0143&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0144&keyword=&show=Table
C; C160R (c.TGC>CGC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0145&keyword=&show=Table
C; H187P ">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0146&keyword=&show=Table
T; G194C">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0147&keyword=&show=Table
A; D195N">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0148&keyword=&show=Table
A; I198N (c.ATC>AAC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0149&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0150&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0151&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0152&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0153&keyword=&show=Table
T; P218S">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0154&keyword=&show=Table
A; W219X">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0155&keyword=&show=Table
C; W219R (c.TGG>CGG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0156&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0158&keyword=&show=Table
T; Q226X">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0159&keyword=&show=Table
C; D233A (c.GAT>GCT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0160&keyword=&show=Table
C; L242P">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0161&keyword=&show=Table
A; D245N (c.GAC>AAC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0162&keyword=&show=Table
C; R252P">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0163&keyword=&show=Table
A; R253K (c.AGA>AAA)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0164&keyword=&show=Table
C; L261P">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0165&keyword=&show=Table
G; P264R">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0166&keyword=&show=Table
T; R265X">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0167&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0168&keyword=&show=Table
A; A277E">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0169&keyword=&show=Table
C; L279P">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0170&keyword=&show=Table
A; E280K (c.GAG>AAG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0171&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0172&keyword=&show=Table
A; V296E">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0173&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0174&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0175&keyword=&show=Table
C; Q302P (c.CAG>CCG)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0176&keyword=&show=Table
C; D308A">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0177&keyword=&show=Table
T ; D308V (c.GAT>GTT)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0178&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0179&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0180&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0181&keyword=&show=Table
C; G340G (c.GGT>GGC)">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0182&keyword=&show=Table
C; I343T">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0183&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0184&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0185&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0186&keyword=&show=Table
T; P366L">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0187&keyword=&show=Table
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0188&keyword=&show=Table
C; L378P">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0189&keyword=&show=Table
C; L380P">
• cgi-bin/tbrowse?source=lafora&table=EPM2B&cols=&flop=AND&fcol=_C0&fcomp==&fkwd=eMut_0190&keyword=&show=Table

Search the database by keyword:

To submit your mutation data: click here.

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The data can be viewed using the XRT Table Browser, and where possible, links to external sources such as NCBI, Pubmed are provided. At this time, the database is under development; if you have comments, please submit them to the site administrator.

The BioXRT (Cross-Referenced Tables) Table Browser is a highly configurable tool for viewing complex, table based information. The tables can be displayed using pre-set options, or customised to view arbitrary subsets of rows, columns or other features.

Please read the usage disclaimer.

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Database updated: June 8, 2021.