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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04629: Variant p.Arg771Cys

High affinity nerve growth factor receptor
Gene: NTRK1
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Variant information Variant position: help 771 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Cysteine (C) at position 771 (R771C, p.Arg771Cys). 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: help 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: help -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: help In CIPA; partially decreased N-glycosylation; reduced expression at the plasma membrane; reduced basal autophosphorylation and complete loss of NGF-induced autophosphorylation; loss of NGF-stimulated calcium flux. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 771 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 796 The length of the canonical sequence.
Location on the sequence: help ACPPEVYAIMRGCWQREPQQ R HSIKDVHARLQALAQAPPVY 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ACPPEVYAIMRGCWQREPQQRHSIKDVHARLQALAQAPPVY

Mouse                         ACPPDVYAIMRGCWQREPQQRLSMKDVHARLQALAQAPPSY

Rat                           ACPPDVYAIMRGCWQREPQQRLSMKDVHARLQALAQAPPSY
Sequence annotation in neighborhood: help 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 33 – 796 High affinity nerve growth factor receptor
Topological domain 440 – 796 Cytoplasmic
Domain 510 – 781 Protein kinase
Site 791 – 791 Interaction with PLCG1
Modified residue 791 – 791 Phosphotyrosine; by autocatalysis
Mutagenesis 791 – 791 Y -> F. Loss of interaction with PLCG1 and altered phosphorylation of PLCG1. Altered neurite outgrowth and altered activation of the MAPK pathway; when associated with F-496.



Literature citations
A comprehensive functional analysis of NTRK1 missense mutations causing hereditary sensory and autonomic neuropathy type IV (HSAN IV).
Shaikh S.S.; Chen Y.C.; Halsall S.A.; Nahorski M.S.; Omoto K.; Young G.T.; Phelan A.; Woods C.G.;
Hum. Mutat. 38:55-63(2017)
Cited for: VARIANTS CIPA GLU-517; GLU-522; PRO-657; THR-699; SER-752; SER-763 AND CYS-771; CHARACTERIZATION OF VARIANTS CIPA GLU-517; GLU-522; PRO-657; THR-699; SER-752; SER-763 AND CYS-771; GLYCOSYLATION; SUBCELLULAR LOCATION; AUTOPHOSPHORYLATION AFTER NGF STIMULATION; FUNCTION;
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.