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UniProtKB/Swiss-Prot Q16620: Variant p.Arg718Cys

BDNF/NT-3 growth factors receptor
Gene: NTRK2
Chromosomal location: 9q22.1
Variant information

Variant position:  718
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Cysteine (C) at position 718 (R718C, p.Arg718Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In a lung carcinoma sample; somatic mutation.
Any additional useful information about the variant.



Sequence information

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:   SRDVYSTDYYRVGGHTMLPI  R WMPPESIMYRKFTTESDVWS
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                         SRDVYSTDYYRVGGHTMLPIRWMPPESIMYRKFTTESDVWS

Mouse                         SRDVYSTDYYRVGGHTMLPIRWMPPESIMYRKFTTESDVWS

Rat                           SRDVYSTDYYRVGGHTMLPIRWMPPESIMYRKFTTESDVWS

Chicken                       SRDVYSTDYYRVGGHTMLPIRWMPPESIMYRKFTTESDVWS

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.

TypePositionsDescription
Chain 32 – 822 BDNF/NT-3 growth factors receptor
Topological domain 455 – 822 Cytoplasmic
Domain 538 – 807 Protein kinase
Site 706 – 706 Interaction with SH2D1A
Modified residue 702 – 702 Phosphotyrosine; by autocatalysis
Modified residue 706 – 706 Phosphotyrosine; by autocatalysis
Modified residue 707 – 707 Phosphotyrosine; by autocatalysis
Alternative sequence 478 – 822 Missing. In isoform TrkB-T1 and isoform TrkB-N-T1.
Alternative sequence 538 – 822 Missing. In isoform TrkB-T-Shc and isoform 5.
Alternative sequence 710 – 735 GGHTMLPIRWMPPESIMYRKFTTESD -> SSCADQRPQGPLSLRDPCCICLLRLS. In isoform TrkB-T-TK.
Helix 717 – 719


Literature citations

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;

Disclaimer: 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.