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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04629: Variant p.Gly577Arg

High affinity nerve growth factor receptor
Gene: NTRK1
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Variant information Variant position: help 577 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 Glycine (G) to Arginine (R) at position 577 (G577R, p.Gly577Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; loss of function; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 577 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 FQREAELLTMLQHQHIVRFF G VCTEGRPLLMVFEYMRHGDL 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                         FQREAELLTMLQHQHIVRFFGVCTEGRPLLMVFEYMRHGDL

Mouse                         FQREAELLTMLQHQHIVRFFGVCTEGGPLLMVFEYMRHGDL

Rat                           FHREAELLTMLQHQHIVRFFGVCTEGGPLLMVFEYMRHGDL
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
Beta strand 575 – 579



Literature citations
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
Indo Y.; Tsuruta M.; Hayashida Y.; Karim M.A.; Ohta K.; Kawano T.; Mitsubuchi H.; Tonoki H.; Awaya Y.; Matsuda I.;
Nat. Genet. 13:485-488(1996)
Cited for: VARIANT CIPA ARG-577; Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
Miura Y.; Mardy S.; Awaya Y.; Nihei K.; Endo F.; Matsuda I.; Indo Y.;
Hum. Genet. 106:116-124(2000)
Cited for: VARIANTS CIPA PRO-93; ARG-522; ARG-577; CYS-654 AND TYR-674; The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor.
Greco A.; Villa R.; Fusetti L.; Orlandi R.; Pierotti M.A.;
J. Cell. Physiol. 182:127-133(2000)
Cited for: VARIANT CIPA ARG-577; Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
Mardy S.; Miura Y.; Endo F.; Matsuda I.; Indo Y.;
Hum. Mol. Genet. 10:179-188(2001)
Cited for: CHARACTERIZATION OF VARIANTS CIPA PRO-93; PRO-213; ARG-522; ARG-577; TRP-649; CYS-654 AND SER-714; CHARACTERIZATION OF VARIANTS SER-85; TYR-604; VAL-613 AND TYR-674;
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.