Variant position: 46 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 RPELGRWEPRGAVRLRPAGT AAGDGALALQEPGLWLGEVEL
Mouse RPELGRWEPHGAVRLRPAGT AAGAAALALQEPGLWLAEVEL
Rat RPELGRWEPRGAVRLRPAGT AAGAAALALQEPGLWLAEVEL
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
32 – 32 Substrate
1 – 243 Missing. In isoform 6.
1 – 159 MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSR -> MIFNK. In isoform 7.
1 – 138 Missing. In isoform 8.
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.
Ganesh S.; Tsurutani N.; Suzuki T.; Hoshii Y.; Ishihara T.; Delgado-Escueta A.V.; Yamakawa K.;
Biochem. Biophys. Res. Commun. 313:1101-1109(2004)
Cited for: BINDING TO GLYCOGEN AND LAFORA BODIES; DOMAIN; CHARACTERIZATION OF VARIANTS EPM2 PRO-25; LYS-28; GLY-32 AND LEU-88; CHARACTERIZATION OF VARIANT PRO-46;
Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene.
Ganesh S.; Shoda K.; Amano K.; Uchiyama A.; Kumada S.; Moriyama N.; Hirose S.; Yamakawa K.;
Mol. Cell. Probes 15:281-289(2001)
Cited for: VARIANT PRO-46;
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
Singh S.; Suzuki T.; Uchiyama A.; Kumada S.; Moriyama N.; Hirose S.; Takahashi Y.; Sugie H.; Mizoguchi K.; Inoue Y.; Kimura K.; Sawaishi Y.; Yamakawa K.; Ganesh S.;
J. Hum. Genet. 50:347-352(2005)
Cited for: VARIANT PRO-46;
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