Variant position: 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 400 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 PQQYGIQYSASYSQQTGPQQ PQQFQGYGQQPTSQAPAPAFS
Caenorhabditis elegans PPPSGP--PSEYGGYAPPQQ QQQ--QFGAPPPQGAPQQGFG
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 – 400 Protein TFG
187 – 400 Disordered
227 – 347 Polar residues
285 – 400 Missing. In isoform 3 and isoform 4.
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
Ishiura H.; Sako W.; Yoshida M.; Kawarai T.; Tanabe O.; Goto J.; Takahashi Y.; Date H.; Mitsui J.; Ahsan B.; Ichikawa Y.; Iwata A.; Yoshino H.; Izumi Y.; Fujita K.; Maeda K.; Goto S.; Koizumi H.; Morigaki R.; Ikemura M.; Yamauchi N.; Murayama S.; Nicholson G.A.; Ito H.; Sobue G.; Nakagawa M.; Kaji R.; Tsuji S.;
Am. J. Hum. Genet. 91:320-329(2012)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4); VARIANT HMSNO LEU-285; ALTERNATIVE SPLICING;
The calcium-binding protein ALG-2 promotes endoplasmic reticulum exit site localization and polymerization of Trk-fused gene (TFG) protein.
Kanadome T.; Shibata H.; Kuwata K.; Takahara T.; Maki M.;
FEBS J. 284:56-76(2017)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH PDCD6; CHARACTERIZATION OF VARIANT SPG57 CYS-106; CHARACTERIZATION OF VARIANT HMSNO LEU-285;
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