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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95278: Variant p.Arg91Pro

Laforin
Gene: EPM2A
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Variant information Variant position: help 91 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Proline (P) at position 91 (R91P, p.Arg91Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In EPM2; atypical form; learning difficuties with childhood-onset. Any additional useful information about the variant.


Sequence information Variant position: help 91 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 331 The length of the canonical sequence.
Location on the sequence: help AAQDGAEPGRVDTFWYKFLK R EPGGELSWEGNGPHHDRCCT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCT

                              AARDGAEPARVDTFWYKFLKREPGGALSWEGNGPHHDRCCT

Mouse                         EA-GGAEPGRVDTFWYKFLQREPGGELHWEGNGPHHDRCCT

Rat                           EAADGAEPGRIDTFWYKFLQREPGGELHWEGNGPHHDRCCT
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 331 Laforin
Domain 1 – 124 CBM20
Binding site 87 – 87
Alternative sequence 1 – 243 Missing. In isoform 6.
Alternative sequence 1 – 159 MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSR -> MIFNK. In isoform 7.
Alternative sequence 1 – 138 Missing. In isoform 8.
Mutagenesis 87 – 87 K -> A. Loss of phosphatase activity. Abolishes glycogen binding.
Mutagenesis 99 – 99 W -> A. Strongly reduces phosphatase activity. Strongly reduces glycogen binding.
Beta strand 84 – 91



Literature citations
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.;
Epilepsia 45:294-295(2004)
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;
Disclaimer: 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.