Suspicious sequence range for UniProtKB:P43251 derived EWASes about pathways2go HOT 1 CLOSED

The correct start and end coordinates for mature BTD protein are 42 and 543, respectively per UniProt P53421. Reactome EWAS coordinates 1-41, probably a curation error that was propagated by copy-pasting to create variant EWAS instances, have been corrected in Reactome.

Two of the variant EWASs are claimed to involve amino acid residues outside the 42-543 range; these have been deleted in Reactome. All of the other variant annotations have been confirmed by reference to annotations in UniProt or ClinVar or both, so all of these have been retained, now with correct (42-543) start and end coordinates.

Reactome:R-HSA-3325564 === BTD G34S seq OK in UniProt; var not in Uniprot; var not in ClinVar DELETE this EWAS
Reactome:R-HSA-3325545 === BTD R79C seq OK in UniProt; var not in UniProt; var listed in ClinVar Keep this EWAS
Reactome:R-HSA-3325576 === BTD A171T seq OK in UniProt; var listed UniProt; var not in ClinVar Keep this EWAS
Reactome:R-HSA-4225080 === BTD A171T seq OK in UniProt; var listed UniProt; var not in ClinVar Keep this EWAS
Reactome:R-HSA-3325552 === BTD Q456H seq OK in UniProt; var listed UniProt; var not in ClinVar Keep this EWAS
Reactome:R-HSA-4225082 === BTD Q456H seq OK in UniProt; var listed UniProt; var not in ClinVar Keep this EWAS
Reactome:R-HSA-3325543 === BTD R538C seq OK in UniProt; var listed UniProt; var not in ClinVar Keep this EWAS
Reactome:R-HSA-4225078 === BTD R538C seq OK in UniProt; var listed UniProt; var not in ClinVar Keep this EWAS
Reactome:R-HSA-3325548 === BTD A755G 755 beyond c-term of protein (543) DELETE this EWAS
Reactome:R-HSA-4225077 === BTD A755G 755 beyond c-term of protein (543) DELETE this EWAS

ClinVar: search BTD at https://www.ncbi.nlm.nih.gov/clinvar, filtering for missense mutations known to be pathological.
UniProt: scan list of variants at https://www.uniprot.org/uniprotkb/P43251/entry#disease_variants
Check mutation descriptions against canonical BTD amino acid sequence at https://www.uniprot.org/uniprotkb/P43251/entry#sequences

from pathways2go.