Variant position: 839 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1922 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 YTRSGEVTISIELKKSGFML SLQMLELITRLHQYIFSHILR
Mouse YTRSGEVTISIELKKSGFTL SQQMLELITRLHQYIFSHILR
Bovine YTRSGEVTISIELKKSGFTL SLQMLELITRLHQYIFSHILR
Chicken YTRSGEVTISIELKKSGFTL SLQMLELITRLHQYIFSHILR
Xenopus tropicalis YTRSGEVTISIELKKSGFTL NLEQLELITRLHQYIFSHILR
Zebrafish YTRSGEVTISIELQKSGFSL SAEQLELITRLHQYIFSHILR
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 – 1922 Endoribonuclease Dicer
14 – 1115 Missing. In isoform 3.
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
Rio Frio T.; Bahubeshi A.; Kanellopoulou C.; Hamel N.; Niedziela M.; Sabbaghian N.; Pouchet C.; Gilbert L.; O'Brien P.K.; Serfas K.; Broderick P.; Houlston R.S.; Lesueur F.; Bonora E.; Muljo S.; Schimke R.N.; Bouron-Dal Soglio D.; Arseneau J.; Schultz K.A.; Priest J.R.; Nguyen V.H.; Harach H.R.; Livingston D.M.; Foulkes W.D.; Tischkowitz M.;
Cited for: VARIANT MNG1 PHE-839;
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