Variant position: 210 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 MNFQTEWDIVQNSSGCNRYP EPMTPDTMIKLYREEGLAYIW
Mouse MNFQTEWDIIQNSSGCNRYP EPMTPDTMMKLYKEEGLSYIW
Rat MNFQTEWDIIQNSSGCNRYP EPMTPDTMMKLYKEEGLAYIW
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
197 – 197 Substrate
1 – 243 Missing. In isoform 6.
160 – 293 Missing. In isoform 5.
200 – 331 Missing. In isoform 4.
194 – 194 T -> D. Does not affect interaction with NHLRC1, PPP1R3C or PRKAA2.
197 – 197 D -> A. Strongly decreased phosphatase activity. No effect on glycogen binding.
205 – 205 C -> S. No effect on homodimerization or carbohydrate binding. Decreased phosphatase activity.
208 – 210
Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.
Singh S.; Satishchandra P.; Shankar S.K.; Ganesh S.;
Hum. Mutat. 29:E1-12(2008)
Cited for: VARIANTS EPM2 ASN-140; TYR-148; LYS-210 AND TRP-310; CHARACTERIZATION OF VARIANT EPM2 TRP-310; 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.