Variant position: 279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 395 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 AHLCNPRGVAVSWLTGAIAV LEHPLALGTGVC-STRVKVFSS
Mouse AHLCSPRGLAVSWLTGAIAV LEHPCAFGRTGCNNTRVKVFN
Rat AHLCNPRGVAVSWLTGAIAV LEHPCALGTSSGNNTRVKVFN
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 – 395 E3 ubiquitin-protein ligase NHLRC1
248 – 300 NHL 4
280 – 280 E -> K. Loss of interaction with EP2MA.
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 ARG-22; PRO-126 AND PRO-279; CHARACTERIZATION OF VARIANTS EPM2 ARG-22; PRO-126 AND PRO-279;
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.