UniProtKB/Swiss-Prot O95278: Variant p.Ala46Pro

Laforin
Gene: EPM2A
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Variant information Variant position:

46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Alanine (A) to Proline (P) at position 46 (A46P, p.Ala46Pro). 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:

Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

Does not affect glycogen binding. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs374338349 [ dbSNP | Ensembl ]

Sequence information 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:

RPELGRWEPRGAVRLRPAGT A AGDGALALQEPGLWLGEVEL 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                         RPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLWLGEVEL

                              RPELGRWEPRGAVRLRPAGSAAGGGARALQEPGLWLGEVEL

Mouse                         RPELGRWEPHGAVRLRPAGTAAGAAALALQEPGLWLAEVEL

Rat                           RPELGRWEPRGAVRLRPAGTAAGAAALALQEPGLWLAEVEL

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
Chain	1 – 331	Laforin
Domain	1 – 124	CBM20
Binding site	32 – 32
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.

Literature citations
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 MELF1 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;

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.