Variant position: 706 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 ENLLVKIGDFGMSRDVYSTD YYRVGGHTMLPIRWMPPESIM
Mouse ENLLVKIGDFGMSRDVYSTD YYRVGGHTMLPIRWMPPESIM
Rat ENLLVKIGDFGMSRDVYSTD YYRVGGHTMLPIRWMPPESIM
Chicken ENLLVKIGDFGMSRDVYSTD YYRVGGHTMLPIRWMPPESIM
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.
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
Yeo G.S.; Connie Hung C.C.; Rochford J.; Keogh J.; Gray J.; Sivaramakrishnan S.; O'Rahilly S.; Farooqi I.S.;
Nat. Neurosci. 7:1187-1189(2004)
Cited for: VARIANT OBHD CYS-706; CHARACTERIZATION OF VARIANT OBHD CYS-706; FUNCTION AS A BDNF-ACTIVATED RECEPTOR; PHOSPHORYLATION; SUBCELLULAR LOCATION;
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.