Variant position: 492 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 GGSSLSPTEGKGSGLQGHII ENPQYFSDACVHHIKRRDIVL
Mouse GGSSLSPTEGKGSGLQGHIM ENPQYFSDTCVHHIKRQDIIL
Rat GGSSLSPTEGKGSGLQGHIM ENPQYFSDTCVHHIKRQDIIL
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
486 – 486 Breakpoint for translocation to form TRK-T1
496 – 496 Interaction with SHC1
496 – 496 Phosphotyrosine; by autocatalysis
496 – 496 Y -> F. Loss of interaction with SHC1 and altered phosphorylation of SHC1. Altered neurite outgrowth and altered activation of the MAPK pathway; when associated with F-791.
490 – 492
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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