Sequence information
Variant position: 634 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:
EEEKCFCEPEDIQDPLCDEL
C RTVIAAAVLFSFIVSVLLSA
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 EEEKCFCEPEDIQDPLCDELC RTVIAAAVLFSFIVSVLLSA
Mouse DEKKCFCEPEDSQGPLCDALC RTIITAA-LFSLIISILLSI
Rat DEKKCFCEPEDSQGPLCDELC RTVITAAVLFSFIISVLLST
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
Chain
29 – 1114
Proto-oncogene tyrosine-protein kinase receptor Ret
Chain
29 – 707
Extracellular cell-membrane anchored RET cadherin 120 kDa fragment
Topological domain
29 – 635
Extracellular
Literature citations
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
Donis-Keller H.; Dou S.; Chi D.; Carlson K.M.; Toshima K.; Lairmore T.C.; Howe J.R.; Moley J.F.; Goodfellow P.; Wells S.A. Jr.;
Hum. Mol. Genet. 2:851-856(1993)
Cited for: VARIANTS MEN2A/MTC TRP-611; SER-618; ARG-620; TYR-620 AND ARG-634;
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.
Mulligan L.M.; Kwok J.B.J.; Healey C.S.; Elsdon M.J.; Eng C.; Gardner E.; Love D.R.; Mole S.E.; Moore J.K.; Papi L.; Ponder M.A.; Telenius H.; Tunnacliffe A.; Ponder B.A.J.;
Nature 363:458-460(1993)
Cited for: VARIANTS MEN2A GLY-618; 632-ASP--ARG-634; GLY-634; PHE-634; TYR-634 AND SER-634;
Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A).
Takiguchi-Shirahama S.; Koyama K.; Miyauchi A.; Wakasugi T.; Oishi S.; Takami H.; Hikiji K.; Nakamura Y.;
Hum. Genet. 95:187-190(1995)
Cited for: VARIANTS MEN2A SER-618; SER-620; ARG-634 AND TYR-634;
Germ-line mutations in nonsyndromic pheochromocytoma.
Neumann H.P.H.; Bausch B.; McWhinney S.R.; Bender B.U.; Gimm O.; Franke G.; Schipper J.; Klisch J.; Altehoefer C.; Zerres K.; Januszewicz A.; Smith W.M.; Munk R.; Manz T.; Glaesker S.; Apel T.W.; Treier M.; Reineke M.; Walz M.K.; Hoang-Vu C.; Brauckhoff M.; Klein-Franke A.; Klose P.; Schmidt H.; Maier-Woelfle M.; Peczkowska M.; Szmigielski C.; Eng C.;
N. Engl. J. Med. 346:1459-1466(2002)
Cited for: VARIANTS PHEOCHROMOCYTOMA ARG-634; GLY-634; TYR-634; SER-634; PHE-634; TRP-634 AND PHE-791;
Disclaimer:
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.