Variant position: 40 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 PLLGKVALGLYFSRDAYWEK LYVDQAAGTPLLYVHALRDAP
Mouse PLLGEAPLGLYFSRDAYWER LYVDQPAGTPLLYVHALRDAP
Rat PLLGEAPLGLYFSRDAYWER LYVDQPAGTPLLYVHALRDAP
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
34 – 41
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.
Yin L.; Barone V.; Seri M.; Bolino A.; Bocciardi R.; Ceccherini I.; Pasini B.; Tocco T.; Lerone M.; Cywes S.; Moore S.; Vanderwinden J.-M.; Abramowicz M.J.; Kristoffersson U.; Larsson L.T.; Hamel B.C.J.; Silengo M.; Martucciello G.; Romeo G.;
Eur. J. Hum. Genet. 2:272-280(1994)
Cited for: VARIANTS HSCR1 PRO-40; LEU-399; GLN-762; PRO-765; GLN-897; GLY-972 AND LEU-973;
Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease.
Yin L.; Seri M.; Barone V.; Tocco T.; Scaranari M.; Romeo G.;
Eur. J. Hum. Genet. 4:356-358(1996)
Cited for: VARIANTS HSCR1 PRO-40 AND PRO-765;
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.