Variant position: 718 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 822 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 SRDVYSTDYYRVGGHTMLPI RWMPPESIMYRKFTTESDVWS
Mouse SRDVYSTDYYRVGGHTMLPI RWMPPESIMYRKFTTESDVWS
Rat SRDVYSTDYYRVGGHTMLPI RWMPPESIMYRKFTTESDVWS
Chicken SRDVYSTDYYRVGGHTMLPI RWMPPESIMYRKFTTESDVWS
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
32 – 822 BDNF/NT-3 growth factors receptor
455 – 822 Cytoplasmic
538 – 807 Protein kinase
706 – 706 Interaction with SH2D1A
702 – 702 Phosphotyrosine; by autocatalysis
706 – 706 Phosphotyrosine; by autocatalysis
707 – 707 Phosphotyrosine; by autocatalysis
478 – 822 Missing. In isoform TrkB-T1 and isoform TrkB-N-T1.
538 – 822 Missing. In isoform TrkB-T-Shc and isoform 5.
710 – 735 GGHTMLPIRWMPPESIMYRKFTTESD -> SSCADQRPQGPLSLRDPCCICLLRLS. In isoform TrkB-T-TK.
717 – 719
Frequent mutations in the neurotrophic tyrosine receptor kinase gene family in large cell neuroendocrine carcinoma of the lung.
Marchetti A.; Felicioni L.; Pelosi G.; Del Grammastro M.; Fumagalli C.; Sciarrotta M.; Malatesta S.; Chella A.; Barassi F.; Mucilli F.; Camplese P.; D'Antuono T.; Sacco R.; Buttitta F.;
Hum. Mutat. 29:609-616(2008)
Cited for: VARIANTS ILE-697; GLY-699 AND CYS-718;
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.