Sequence information
Variant position: 365 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 566 The length of the canonical sequence.
Location on the sequence:
IEHENNNRFEEYEWCGQKRI
R ATTLLEGGFRGSGFIMCSGK
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 IEHENNNRFEEYEWCGQKRIR ATTLLEGGFRGSGFIMCSGK
Mouse IEHADSNRFEEYEWCGQKRIR ATTLLEGGFRGSGFVMCSGK
Bovine IEHENSNRFEEYEWCGQKRIR ATTLLEGGFRGSGFVMCSGK
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
Chain
1 – 566
E3 ubiquitin-protein ligase RNF220
Literature citations
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A.; Fortugno P.; Motta M.; Aiello C.; Petrini S.; Ciolfi A.; Cipressa F.; Moroni I.; Leuzzi V.; Pieroni L.; Marini F.; Boespflug Tanguy O.; Eymard-Pierre E.; Danti F.R.; Compagnucci C.; Zambruno G.; Brusco A.; Santorelli F.M.; Chiapparini L.; Francalanci P.; Loizzo A.L.; Tartaglia M.; Cestra G.; Bertini E.;
Brain 144:3020-3035(2021)
Cited for: VARIANTS HLD23 GLN-363 AND GLN-365; CHARACTERIZATION OF VARIANTS HLD23 GLN-363 AND GLN-365; INTERACTION WITH CTNNB1; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.