Variant position: 618 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 EPRGIKAGYGTCNCFPEEEK CFCEPEDIQDPLCDELCRTVI
Mouse ERQGIKAGYGICNCFPDEKK CFCEPEDSQGPLCDALCRTII
Rat ERQGIKAGYGICNCFPDEKK CFCEPEDSQGPLCDELCRTVI
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
29 – 707 Extracellular cell-membrane anchored RET cadherin 120 kDa fragment
29 – 635 Extracellular
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
Xue F.; Yu H.; Maurer L.H.; Memoli V.A.; Nutile-Mcmenemy N.; Schuster M.K.; Browden D.W.; Mao J.-I.; Noll W.W.;
Hum. Mol. Genet. 3:635-638(1994)
Cited for: VARIANTS MEN2A/MTC ARG-618; SER-618; PHE-620; ARG-620; PHE-634; GLY-634 AND TYR-634;
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
Blaugrund J.E.; Johns M.M. Jr.; Eby Y.J.; Ball D.W.; Baylin S.B.; Hruban R.H.; Sidransky D.;
Hum. Mol. Genet. 3:1895-1897(1994)
Cited for: VARIANTS MTC/MEN2A TYR-609; ARG-618; SER-618 AND SER-620;
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
Mulligan L.M.; Eng C.; Attie T.; Lyonnet S.; Marsh D.J.; Hyland V.J.; Robinson B.G.; Frilling A.; Verellen-Dumoulin C.; Safar A.; Venter D.J.; Munnich A.; Ponder B.A.J.;
Hum. Mol. Genet. 3:2163-2167(1994)
Cited for: VARIANTS HSCR1 TRP-609; ARG-618 AND ARG-620; VARIANT MEN2A ARG-618; VARIANT MTC ARG-620;
Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
Peretz H.; Luboshitsky R.; Baron E.; Biton A.; Gershoni R.; Usher S.; Grynberg E.; Yakobson E.; Graff E.; Lapidot M.;
Hum. Mutat. 10:155-159(1997)
Cited for: VARIANT MTC ARG-618; VARIANT HSCR1 ARG-618;
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