Variant position: 91 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 331 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AAQDGAEPGRVDTFWYKFLK REPGGELSWEGNGPHHDRCCT
Mouse EA-GGAEPGRVDTFWYKFLQ REPGGELHWEGNGPHHDRCCT
Rat EAADGAEPGRIDTFWYKFLQ REPGGELHWEGNGPHHDRCCT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 331 Laforin
1 – 124 CBM20
87 – 87 Substrate
1 – 243 Missing. In isoform 6.
1 – 159 MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSR -> MIFNK. In isoform 7.
1 – 138 Missing. In isoform 8.
87 – 87 K -> A. Loss of phosphatase activity. Abolishes glycogen binding.
99 – 99 W -> A. Strongly reduces phosphatase activity. Strongly reduces glycogen binding.
84 – 91
A novel exon 1 mutation in a patient with atypical Lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.
Annesi G.; Sofia V.; Gambardella A.; Ciro Candiano I.C.; Spadafora P.; Annesi F.; Cutuli N.; De Marco E.V.; Civitelli D.; Carrideo S.; Tarantino P.; Barone R.; Zappia M.; Quattrone A.;
Cited for: VARIANT EPM2 PRO-91;
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
Ianzano L.; Young E.J.; Zhao X.C.; Chan E.M.; Rodriguez M.T.; Torrado M.V.; Scherer S.W.; Minassian B.A.;
Hum. Mutat. 23:170-176(2004)
Cited for: VARIANTS EPM2 PRO-91; HIS-171 AND SER-279; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.