Variant position: 768 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 GRAGYTTVAVKMLKENASPS ELRDLLSEFNVLKQVNHPHVI
Mouse GRAGYTTVAVKMLKENASQS ELRDLLSEFNLLKQVNHPHVI
Rat GRAGYTTVAVKMLKENASQS ELRDLLSEFNLLKQVNHPHVI
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
758 – 758 ATP
708 – 1114 Missing. Loss of induced cell death, but increased cell aggregation.
758 – 758 K -> R. Loss of kinase activity. No effect on interaction with and dissociation from CBLC and CD2AP.
766 – 779
A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.
Eng C.; Smith D.P.; Mulligan L.M.; Healey C.S.; Zvelebil M.J.; Stonehouse T.J.; Ponder M.A.; Jackson C.E.; Waterfield M.D.; Ponder B.A.J.;
Cited for: VARIANT MTC ASP-768;
RET mutations in exons 13 and 14 of FMTC patients.
Bolino A.; Schuffenecker I.; Luo Y.; Seri M.; Silengo M.; Tocco T.; Chabrier G.; Houdent C.; Murat A.; Schlumberger M.; Tournaire J.; Lenoir G.M.; Romeo G.;
Cited for: VARIANTS MTC ASP-768 AND LEU-804;
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.
Kambouris M.; Jackson C.E.; Feldman G.L.;
Hum. Mutat. 8:64-70(1996)
Cited for: VARIANTS MEN2A; VARIANT MTC ASP-768; VARIANT MEN2B THR-918;
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