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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 279 (L279P, p.Leu279Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MELF2; 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.


Sequence information Variant position: help 279
Protein sequence length: help 395
Location on the sequence: help AHLCNPRGVAVSWLTGAIAV L EHPLALGTGVCSTRVKVFSS
Residue conservation: help 
Human                         AHLCNPRGVAVSWLTGAIAVLEHPLALGTGVC-STRVKVFSS

Mouse                         AHLCSPRGLAVSWLTGAIAVLEHPCAFGRTGCNNTRVKVFN

Rat                           AHLCNPRGVAVSWLTGAIAVLEHPCALGTSSGNNTRVKVFN
Sequence annotation in neighborhood: help
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 MELF2 ARG-22; PRO-126 AND PRO-279; CHARACTERIZATION OF VARIANTS MELF2 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.