Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07949: Variant p.Ser32Leu

Proto-oncogene tyrosine-protein kinase receptor Ret
Gene: RET
Feedback?
Variant information Variant position: help 32 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 Serine (S) to Leucine (L) at position 32 (S32L, p.Ser32Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 HSCR1; familial form. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 32 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 RLLLLLLLPLLGKVALGLYF S RDAYWEKLYVDQAAGTPLLY 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                         RLLLLLLLPLLGKVALGLYFSRDAYWEKLYVDQAAGTPLLY

Mouse                         GLKLILLLPLLGEAPLGLYFSRDAYWERLYVDQPAGTPLLY

Rat                           GLKLFLLLPLLGEAPLGLYFSRDAYWERLYVDQPAGTPLLY
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
Region 29 – 153 Cadherin-like region 1 (CLD1)
Mutagenesis 36 – 36 Y -> S. Defects in maturation and processing.
Mutagenesis 41 – 41 Y -> A. Defects in maturation and processing.
Beta strand 30 – 32



Literature citations
Mutations of the RET proto-oncogene in Hirschsprung's disease.
Edery P.; Lyonnet S.; Mulligan L.M.; Pelet A.; Dow E.; Abel L.; Holder S.; Nihoul-Fkete C.; Ponder B.A.J.; Munnich A.;
Nature 367:378-380(1994)
Cited for: VARIANTS HSCR1 LEU-32; LEU-64; GLN-330 AND LEU-393; A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
Bolk S.; Pelet A.; Hofstra R.M.W.; Angrist M.; Salomon R.; Croaker D.; Buys C.H.C.M.; Lyonnet S.; Chakravarti A.;
Proc. Natl. Acad. Sci. U.S.A. 97:268-273(2000)
Cited for: VARIANTS HSCR1 LEU-32; CYS-77; TRP-360 AND LYS-394;
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.