Variant position: 337 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 452 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 VARRWGERKSKPNMNYDKLS RALRYYYDKNIMTKVHGKRYA
Mouse VARRWGERKSKPNMNYDKLS RALRYYYDKNIMTKVHGKRYA
Bovine VARRWGERKSKPNMNYDKLS RALRYYYDKNIMTKVHGKRYA
Xenopus laevis VARRWGERKSKPNMNYDKLS RALRYYYDKSIMTKVHGKRYA
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
1 – 452 Friend leukemia integration 1 transcription factor
281 – 361 ETS
332 – 344
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
Stockley J.; Morgan N.V.; Bem D.; Lowe G.C.; Lordkipanidze M.; Dawood B.; Simpson M.A.; Macfarlane K.; Horner K.; Leo V.C.; Talks K.; Motwani J.; Wilde J.T.; Collins P.W.; Makris M.; Watson S.P.; Daly M.E.;
Cited for: FUNCTION; INVOLVEMENT IN BDPLT21; VARIANTS BDPLT21 TRP-337 AND CYS-343; CHARACTERIZATION OF VARIANTS BDPLT21 TRP-337 AND CYS-343;
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