Variant position: 69 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 VVCLACVAALAHPRTLALEC PFCRRACRGCDTSDCLPVLHL
Mouse VVCLACVAALAHPRTLGLEC PFCRRACRACDTSDCLPVLHL
Rat VVCLACVAALAHPRTLALEC PFCRRACRACDTSDCLPVLHL
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
26 – 72 RING-type
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Chan E.M.; Young E.J.; Ianzano L.; Munteanu I.; Zhao X.; Christopoulos C.C.; Avanzini G.; Elia M.; Ackerley C.A.; Jovic N.J.; Bohlega S.; Andermann E.; Rouleau G.A.; Delgado-Escueta A.V.; Minassian B.A.; Scherer S.W.;
Nat. Genet. 35:125-127(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS EPM2 SER-26; SER-33; ALA-69; PRO-87; ASN-146 AND PRO-302; VARIANT LEU-111;
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Couarch P.; Vernia S.; Gourfinkel-An I.; Lesca G.; Gataullina S.; Fedirko E.; Trouillard O.; Depienne C.; Dulac O.; Steschenko D.; Leguern E.; Sanz P.; Baulac S.;
J. Mol. Med. 89:915-925(2011)
Cited for: VARIANTS EPM2 TYR-46; ALA-69; ASN-146 AND PRO-261; CHARACTERIZATION OF VARIANTS EPM2 TYR-46; ALA-69; ASN-146 AND PRO-261; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH EPM2A;
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.