Variant position: 310 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 RKVQYFLMAKRPAVYIDEEA LARAQEDFFQKFGKVRSSVCS
Mouse RKVQYFIMAKRPAVYIDEDA LAQAQQDFSQKFGKVHSSICA
Rat RKVQYFIMAKRPAVYIDEEA LAQAQQDFFQKFGKVHSSICT
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
243 – 311 Tyrosine-protein phosphatase
304 – 304 Substrate
329 – 329 Required for homodimerization
200 – 331 Missing. In isoform 4.
294 – 331 YFLMAKRPAVYIDEEALARAQEDFFQKFGKVRSSVCSL -> PSTDAAPGGVPAACAAGEGTHRVRALQRWGGPLHRGCLRLAPVCDGLESEEGAVFPHGQEAGCLH. In isoform 5.
310 – 320 LARAQEDFFQK -> ASQDTFPL. In isoform 2.
321 – 321 F -> S. Impairs protein stability. Strongly reduces phosphatase activity. No effect on glycogen binding.
329 – 329 C -> S. Fails to homodimerize. Does not affect carbohydrate binding, interaction with NHLRC1, phosphatase activity, or ubiquitination by NHLRC1.
329 – 329 C -> S. No effect on homodimerization.
307 – 321
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.