Variant position: 330 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 LVRRYTSTLLPGDTWAQQTF RVEHWPNETSVQANGSFVRAT
Mouse LVRRYTNTLLSGDSWAQQTF RVEHSPIETLVQVNNNSVRAT
Rat LVRRYTSTLLSGDSWAQQTF RVEHTPNETLVQSNNNSVRAT
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
336 – 336 N-linked (GlcNAc...)
343 – 343 N-linked (GlcNAc...)
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.;
Cited for: VARIANTS HSCR1 LEU-32; LEU-64; GLN-330 AND LEU-393;
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
Angrist M.; Bolk S.; Thiel B.; Puffenberger E.G.; Hofstra R.M.W.; Buys C.H.C.M.; Cass D.T.; Chakravarti A.;
Hum. Mol. Genet. 4:821-830(1995)
Cited for: VARIANTS HSCR1 LEU-20; SER-93; GLN-330; TYR-609 AND ARG-620; VARIANT CYS-982;
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.