Variant position: 609 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 SIVGGHEPGEPRGIKAGYGT CNCFPEEEKCFCEPEDIQDPL
Mouse DIVGGHERGERQGIKAGYGI CNCFPDEKKCFCEPEDSQGPL
Rat PIVGGHERGERQGIKAGYGI CNCFPDEKKCFCEPEDSQGPL
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
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;
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
Angrist M.; Bolk S.; Thiel B.; Puffenberger E.G.; Hofstra R.M.W.; Buys C.H.C.M.; Cass D.T.; Chakravarti A.;
Hum. Mol. Genet. 4:821-830(1995)
Cited for: VARIANTS HSCR1 LEU-20; SER-93; GLN-330; TYR-609 AND ARG-620; VARIANT CYS-982;
Mutations in three genes are found associated with the development of Hirschsprung disease: RET, EDNRB and EDN3.
Hofstra R.M.W.; Osinga J.; Stulp R.P.; Scheffer H.; Meijers C.; Buys C.H.C.M.;
Cited for: VARIANTS HSCR1 TYR-157; LYS-359; TYR-609; ARG-620; ASN-1059 DEL AND PRO-1061;
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
Decker R.A.; Peacock M.L.; Watson P.;
Hum. Mol. Genet. 7:129-134(1998)
Cited for: VARIANTS MEN2A TYR-609; SER-618; ARG-620 AND TRP-620; VARIANTS HSCR1 TYR-609; SER-618; ARG-620 AND TRP-620;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.