Variant position: 1061 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 VDCNNAPLPRALPSTWIENK LYGMSDPNWPGESPVPLTRAD
Mouse VDCNNAPLPRSLPSTWIENK LYGMSDPNWPGESPVPLTRAD
Rat VDCNSAPLPRSLPSTWIENK LYGMSDPNWPGESPVPLTRAD
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
658 – 1114 Cytoplasmic
1062 – 1062 Phosphotyrosine; by autocatalysis
708 – 1114 Missing. Loss of induced cell death, but increased cell aggregation.
1062 – 1062 Y -> F. Abolishes GFRAL-mediated MAPK1/MAPK2 phosphorylation.
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;
Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.
Geneste O.; Bidaud C.; De Vita G.; Hofstra R.M.W.; Tartare-Deckert S.; Buys C.H.C.M.; Lenoir G.M.; Santoro M.; Billaud M.;
Hum. Mol. Genet. 8:1989-1999(1999)
Cited for: VARIANTS HSCR1 ASN-1059 DEL AND PRO-1061;
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