Variant position: 1064 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 NNAPLPRALPSTWIENKLYG MSDPNWPGESPVPLTRADGTN
Mouse NNAPLPRSLPSTWIENKLYG MSDPNWPGESPVPLTRADGTS
Rat NSAPLPRSLPSTWIENKLYG MSDPNWPGESPVPLTRADGTS
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
1064 – 1114 MSDPNWPGESPVPLTRADGTNTGFPRYPNDSVYANWMLSPSAAKLMDTFDS -> RISHAFTRF. In isoform 2.
708 – 1114 Missing. Loss of induced cell death, but increased cell aggregation.
1062 – 1062 Y -> F. Abolishes GFRAL-mediated MAPK1/MAPK2 phosphorylation.
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.
So M.T.; Leon T.Y.; Cheng G.; Tang C.S.; Miao X.P.; Cornes B.K.; Diem N.N.; Cui L.; Ngan E.S.; Lui V.C.; Wu X.Z.; Wang B.; Wang H.; Yuan Z.W.; Huang L.M.; Li L.; Xia H.; Zhu D.; Liu J.; Nguyen T.L.; Chan I.H.; Chung P.H.; Liu X.L.; Zhang R.; Wong K.K.; Sham P.C.; Cherny S.S.; Tam P.K.; Garcia-Barcelo M.M.;
PLoS ONE 6:E28986-E28986(2011)
Cited for: VARIANTS HSCR1 549-LYS-GLY-550 DEL; CYS-114; HIS-114; GLY-145; LEU-155; PRO-175; ALA-278; PRO-278; ASN-300; GLN-313; ILE-316; LEU-339; TYR-353; GLN-360; MET-397; MET-412; ARG-423; LYS-480; GLN-595; LEU-679; GLN-694; SER-783; ARG-830; THR-907; LEU-961; VAL-1052; CYS-1062 AND THR-1064; VARIANTS ASN-278 AND MET-292;
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