Variant position: 139 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 275 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 GIVTAKSGDIFKVDVGGSEP ASLSYLSFEGATKRNRPNVQV
Mouse GIVIAKSGDIFKVDVGGSEP ASLSYLAFEGATKRNRPNVQV
Bovine GIVTAKSGDIFKVDVGGSEP ASLSYLAFEGATKRNRPNVQV
Slime mold GTIIEKHAESFKVDIGSSCS ALLSAYSFEGATKSNKPLLNV
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
2 – 275 Exosome complex component RRP40
151 – 151 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Wan J.; Yourshaw M.; Mamsa H.; Rudnik-Schoneborn S.; Menezes M.P.; Hong J.E.; Leong D.W.; Senderek J.; Salman M.S.; Chitayat D.; Seeman P.; von Moers A.; Graul-Neumann L.; Kornberg A.J.; Castro-Gago M.; Sobrido M.J.; Sanefuji M.; Shieh P.B.; Salamon N.; Kim R.C.; Vinters H.V.; Chen Z.; Zerres K.; Ryan M.M.; Nelson S.F.; Jen J.C.;
Nat. Genet. 44:704-708(2012)
Cited for: VARIANTS PCH1B ALA-31; ALA-132; PRO-139 AND ARG-238;
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