Variant position: 674 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 RNCLVGQGLVVKIGDFGMSR DIYSTDYYRVGGRTMLPIRWM
Mouse RNCLVGQGLVVKIGDFGMSR DIYSTDYYRVGGRTMLPIRWM
Rat RNCLVGQGLVVKIGDFGMSR DIYSTDYYRVGGRTMLPIRWM
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
440 – 796 Cytoplasmic
510 – 781 Protein kinase
676 – 676 Phosphotyrosine; by autocatalysis
680 – 680 Phosphotyrosine; by autocatalysis
681 – 681 Phosphotyrosine; by autocatalysis
672 – 675
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;
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.