Variant position: 804 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1114 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 HPHVIKLYGACSQDGPLLLI VEYAKYGSLRGFLRESRKVGP
Mouse HPHVIKLYGACSQDGPLLLI VEYAKYGSLRGFLRDSRKIGP
Rat HPHVIKLYGACSQDGPLLLI VEYAKYGSLRGFLRDSRKIGP
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
29 – 1114 Proto-oncogene tyrosine-protein kinase receptor Ret
708 – 1017 Soluble RET kinase fragment
658 – 1114 Cytoplasmic
724 – 1016 Protein kinase
806 – 806 Phosphotyrosine; by autocatalysis
809 – 809 Phosphotyrosine; by autocatalysis
708 – 1114 Missing. Loss of induced cell death, but increased cell aggregation.
801 – 805
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.
Fattoruso O.; Quadro L.; Libroia A.; Verga U.; Lupoli G.; Cascone E.; Colantuoni V.;
Hum. Mutat. Suppl. 1:S167-S171(1998)
Cited for: VARIANT MTC MET-804;
A RET double mutation in the germline of a kindred with FMTC.
Bartsch D.K.; Hasse C.; Schug C.; Barth P.; Rothmund M.; Hoeppner W.;
Exp. Clin. Endocrinol. Diabetes 108:128-132(2000)
Cited for: VARIANTS MTC MET-804 AND LEU-844;
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