Variant position: 180 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 LKPRELCFPETRPSFRIREN RPPGTFHQFRLLPVQFLCPNI
Mouse FKAQDLCIPETAVSFRVREN RPPGTFYHFHMLPVQFLCPNI
Rat FKARDLCTPETGVSFRIREN RPPGTFYQFRMLPVQFLCPNI
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
168 – 272 Cadherin
199 – 199 N-linked (GlcNAc...) asparagine
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Seri M.; Yin L.; Barone V.; Bolino A.; Celli I.; Bocciardi R.; Pasini B.; Ceccherini I.; Lerone M.; Kristoffersson U.; Larsson L.T.; Casasa J.M.; Cass D.T.; Abramowicz M.J.; Vanderwinden J.-M.; Kravcenkiene I.; Baric I.; Silengo M.; Martucciello G.; Romeo G.;
Hum. Mutat. 9:243-249(1997)
Cited for: VARIANTS HSCR1 PRO-180; GLN-313; ARG-620 AND PHE-791;
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