Mutations not correctly mapped to isoform for FGFR1

[MZ-DKFZ]

Some mutations appear to be mapped incorrectly to the isoforms.

Example: I investigated mutations in FGFR1 in the curated, non-redundant dataset.

As you can see, multiple mutations map to amino acid position 577. Annotation indicates that for example an exchange N577K occurred in some patients. However, this is false. There is no N (Asparagine) at position 577 in the isoform that this entry refers to. There is an R (Arginine). So this mapping must be incorrect. A quick literature research indicates that these mutations should probably map to position 546, a well-known hotspot.

It does not seem to be a general issue with all isoforms, as switching to another isoform fixes the issue. However, since the canonical isoform is affected, and it's chosen as default, this makes the data very difficult to work with and may lead to misinterpretation.

For replication of this issue see: [https://www.cbioportal.org/results/mutations?tab_index=tab_visualize&Action=Submit&session_id=628491e00934121b56df4d44&plots_horz_selection=%7B%7D&plots_vert_selection=%7B%7D&plots_coloring_selection=%7B%7D&mutations_transcript_id=ENST00000447712]

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