Variant position: 6 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 MLRGG RRGQLGWHSWAAGPGSLLAWL
Mouse MLRGQ RLGQLGWHRPAAGLGSLMTSL
Rat MLRGQ RHGQLGWHRPAAGLGGLVTSL
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
1 – 32
1 – 71 MLRGGRRGQLGWHSWAAGPGSLLAWLILASAGAAPCPDACCPHGSSGLRCTRDGALDSLHHLPGAENLTEL -> MKEAALICLAPSVPPILTVKSWDTMQLRAARSRCTNLLAAS. In isoform 3.
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Mardy S.; Miura Y.; Endo F.; Matsuda I.; Sztriha L.; Frossard P.; Moosa A.; Ismail E.A.R.; Macaya A.; Andria G.; Toscano E.; Gibson W.; Graham G.E.; Indo Y.;
Am. J. Hum. Genet. 64:1570-1579(1999)
Cited for: VARIANTS CIPA PRO-213; TRP-649 AND SER-714; VARIANTS SER-85; TYR-604 AND VAL-613;
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;
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G.L.; Murphy S.M.; Polke J.M.; Laura M.; Salih M.A.; Muntoni F.; Blake J.; Brandner S.; Davies N.; Horvath R.; Price S.; Donaghy M.; Roberts M.; Foulds N.; Ramdharry G.; Soler D.; Lunn M.P.; Manji H.; Davis M.B.; Houlden H.; Reilly M.M.;
J. Neurol. 259:1673-1685(2012)
Cited for: VARIANTS CIPA LYS-492 AND CYS-654; VARIANT TRP-6;
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