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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q06265: Variant p.Leu14Pro

Exosome complex component RRP45
Gene: EXOSC9
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Variant information Variant position: help 14
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 14 (L14P, p.Leu14Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In PCH1D; reduced EXOSC9 and exosome levels in patient cells.
Other resources: help


Sequence information Variant position: help 14
Protein sequence length: help 439
Location on the sequence: help MKETPLSNCERRF L LRAIEEKKRLDGRQTYDYRN
Residue conservation: help 
Human                         MKETPLSNCERRFLLRAIEEKKRLDGRQTYDYRN

Mouse                         MKETPLSNCERRFLLRAIEEKKRLDGRQTYDYRN

Rat                           MKETPLSNCERRFLLRAIEEKKRLDGRQTYDYRN

Bovine                        MKETPLSNCERRFLLRAIEEKKRLDGRQTYDYRN

Zebrafish                     MRDTPLSNCERLFLLKAIKEKKRLDGRQTYDYRN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 439 Exosome complex component RRP45
Region 1 – 268 ARE binding
Alternative sequence 1 – 84 Missing. In isoform 3 and isoform 4.
Helix 8 – 19



Literature citations
Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy.
Burns D.T.; Donkervoort S.; Mueller J.S.; Knierim E.; Bharucha-Goebel D.; Faqeih E.A.; Bell S.K.; Alfaifi A.Y.; Monies D.; Millan F.; Retterer K.; Dyack S.; MacKay S.; Morales-Gonzalez S.; Giunta M.; Munro B.; Hudson G.; Scavina M.; Baker L.; Massini T.C.; Lek M.; Hu Y.; Ezzo D.; Alkuraya F.S.; Kang P.B.; Griffin H.; Foley A.R.; Schuelke M.; Horvath R.; Boennemann C.G.;
Am. J. Hum. Genet. 102:858-873(2018)
Cited for: INVOLVEMENT IN PCH1D; VARIANTS PCH1D PRO-14 AND 161-ARG--ASN-439 DEL;
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.