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UniProtKB/Swiss-Prot Q6VVB1: Variant p.Leu279Pro

E3 ubiquitin-protein ligase NHLRC1
Gene: NHLRC1
Variant information

Variant position:  279
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  -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:  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:  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:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         AHLCNPRGVAVSWLTGAIAVLEHPLALGTGVC-STRVKVFSS

Mouse                         AHLCSPRGLAVSWLTGAIAVLEHPCAFGRTGCNNTRVKVFN

Rat                           AHLCNPRGVAVSWLTGAIAVLEHPCALGTSSGNNTRVKVFN

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.

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.