Variant position: 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 796 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 LGELRNLTIVKSGLRFVAPD AFHFTPRLSRLNLSFNALESL
Mouse LGELRSLTIVKSGLRFVAPD AFRFTPRLSHLNLSSNALESL
Rat LGELRSLTIVKSGLRFVAPD AFHFTPRLSHLNLSSNALESL
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
33 – 796 High affinity nerve growth factor receptor
33 – 423 Extracellular
90 – 113 LRR 1
95 – 95 N-linked (GlcNAc...) asparagine
121 – 121 N-linked (GlcNAc...) asparagine
110 – 112
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Altassan R.; Saud H.A.; Masoodi T.A.; Dosssari H.A.; Khalifa O.; Al-Zaidan H.; Sakati N.; Rhabeeni Z.; Al-Hassnan Z.; Binamer Y.; Alhashemi N.; Wade W.; Al-Zayed Z.; Al-Sayed M.; Al-Muhaizea M.A.; Meyer B.; Al-Owain M.; Wakil S.M.;
Am. J. Med. Genet. A 173:1009-1016(2017)
Cited for: VARIANTS CIPA ASP-110; 146-SER--GLY-796 DEL; 176-GLN--GLY-796 DEL; 476-LEU--GLY-796 DEL; GLN-649 AND PRO-700;
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.