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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04629: Variant p.Asp674Tyr

High affinity nerve growth factor receptor
Gene: NTRK1
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Variant information Variant position: help 674 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 Aspartate (D) to Tyrosine (Y) at position 674 (D674Y, p.Asp674Tyr). 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 medium size and acidic (D) to large size and aromatic (Y) 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; might impair the function of the enzyme without compromising autophosphorylation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 674 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 RNCLVGQGLVVKIGDFGMSR D IYSTDYYRVGGRTMLPIRWM 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                         RNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWM

Mouse                         RNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWM

Rat                           RNCLVGQGLVVKIGDFGMSRDIYSTDYYRVGGRTMLPIRWM
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
Modified residue 676 – 676 Phosphotyrosine; by autocatalysis
Modified residue 680 – 680 Phosphotyrosine; by autocatalysis
Modified residue 681 – 681 Phosphotyrosine; by autocatalysis
Helix 672 – 675



Literature citations
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.
Nam T.S.; Li W.; Yoon S.; Eom G.H.; Kim M.K.; Jung S.T.; Choi S.Y.;
J. Peripher. Nerv. Syst. 22:92-99(2017)
Cited for: PHOSPHORYLATION; VARIANTS CIPA 235-SER--GLY-796 DEL; ASN-596 AND TYR-674; CHARACTERIZATION OF VARIANTS CIPA 235-SER--GLY-796 DEL AND ASN-596; 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; 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.