Variant position: 198 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 293 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 LVKRQKTHFHDLPCGASVIL GNNGFIWIYPTPEHKEEEAGG
Mouse LVKRQKTHFHDLPCGASVIL GNNGFIWIYPTPEHKDEDAGG
Bovine LVKRQKTHFHDLPCGASVIL GNNGFIWVYPTPEHKEDDAGG
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 – 293 Exosome complex component RRP4
193 – 198
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N.; Neuhann T.; Kahlert A.K.; Klink B.; Hackmann K.; Neuhann I.; Novotna B.; Schallner J.; Krause C.; Glass I.A.; Parnell S.E.; Benet-Pages A.; Nissen A.M.; Berger W.; Altmueller J.; Thiele H.; Weber B.H.; Schrock E.; Dobyns W.B.; Bier A.; Rump A.;
J. Med. Genet. 53:419-425(2016)
Cited for: INVOLVEMENT IN SHRF; VARIANTS SHRF VAL-30 AND ASP-198;
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