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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07949: Variant p.Cys634Gly

Proto-oncogene tyrosine-protein kinase receptor Ret
Gene: RET
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Variant information Variant position: help 634 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Glycine (G) at position 634 (C634G, p.Cys634Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MEN2A and pheochromocytoma. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 634 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1114 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EEEKCFCEPEDIQDPLCDELCRTVIAAAVLFSFIVSVLLSA

Mouse                         DEKKCFCEPEDSQGPLCDALCRTIITAA-LFSLIISILLSI

Rat                           DEKKCFCEPEDSQGPLCDELCRTVITAAVLFSFIISVLLST
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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
Disulfide bond 630 – 634



Literature citations
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-GLU--CYS-634 DELINS ASP-VAL-ARG; GLY-634; PHE-634; TYR-634 AND SER-634; 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; 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.