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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6VVB1: Variant p.Leu279Pro

E3 ubiquitin-protein ligase NHLRC1
Gene: NHLRC1
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Variant information Variant position: help 279 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 Leucine (L) to Proline (P) at position 279 (L279P, p.Leu279Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; significantly alters the distribution of the protein; a great majority of cells expressing the mutant form formed perinuclear inclusion when compared with the wild-type form. Any additional useful information about the variant.


Sequence information Variant position: help 279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 395 The length of the canonical sequence.
Location on the sequence: help AHLCNPRGVAVSWLTGAIAV L EHPLALGTGVCSTRVKVFSS 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                         AHLCNPRGVAVSWLTGAIAVLEHPLALGTGVC-STRVKVFSS

Mouse                         AHLCSPRGLAVSWLTGAIAVLEHPCAFGRTGCNNTRVKVFN

Rat                           AHLCNPRGVAVSWLTGAIAVLEHPCALGTSSGNNTRVKVFN
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 – 395 E3 ubiquitin-protein ligase NHLRC1
Repeat 248 – 300 NHL 4
Mutagenesis 280 – 280 E -> K. Loss of interaction with EP2MA.



Literature citations
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;
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.