Variant position: 790 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 RDLLSEFNVLKQVNHPHVIK LYGACSQDGPLLLIVEYAKYG
Mouse RDLLSEFNLLKQVNHPHVIK LYGACSQDGPLLLIVEYAKYG
Rat RDLLSEFNLLKQVNHPHVIK LYGACSQDGPLLLIVEYAKYG
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.
790 – 794
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.
Berndt I.; Reuter M.; Saller B.; Frank-Raue K.; Groth P.; Grussendorf M.; Raue F.; Ritter M.M.; Hoeppner W.;
J. Clin. Endocrinol. Metab. 83:770-774(1998)
Cited for: VARIANTS MTC/MEN2A PHE-790 AND PHE-791;
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