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mutalyzer / mutalyzer2

HGVS variant nomenclature checker
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Interpret transl_except aa:TERM annotation #127

Open martijnvermaat opened 8 years ago

martijnvermaat commented 8 years ago

Several transcripts in NC_012920.1 (rCRS) are annotated with an incomplete CDS. This CDS is completed by the addition of a 3' polyA tail to the mRNA.

This is annotated in the GenBank file as a note and with the transl_except tag. Mutalyzer should interpret this tag in order to correctly construct the complete CDS.

http://www.ncbi.nlm.nih.gov/nuccore/251831106 https://mutalyzer.nl/name-checker?description=NC_012920.1%28ND1_v001%29%3Ac.232del

martijnvermaat commented 8 years ago

This is related to the work by the MoBiLe 2013 students on the Selenocysteine translation exception in the mobile-2013 branch.