Variant position: 472 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 739 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 SYGWIEIVGCADRSCYDLSC HARATKVPLVAEKPLKEPKTV
Mouse SYGWIEIVGCADRSCYDLSC HARATKVPLVAEKPLKEPKTV
Caenorhabditis elegans SYGWIECVGNADRACYDLQQ HYKATNVKLVAEKKLPEPVDV
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.
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
Antonellis A.; Lee-Lin S.Q.; Wasterlain A.; Leo P.; Quezado M.; Goldfarb L.G.; Myung K.; Burgess S.; Fischbeck K.H.; Green E.D.;
J. Neurosci. 26:10397-10406(2006)
Cited for: SUBCELLULAR LOCATION; VARIANTS CMT2D GLY-125 AND ARG-294; CHARACTERIZATION OF VARIANTS CMT2D GLY-125 AND ARG-294; VARIANTS HMN5A PRO-183; ARG-472 AND ARG-580; CHARACTERIZATION OF VARIANTS HMN5A PRO-183; ARG-472 AND ARG-580;
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Griffin L.B.; Sakaguchi R.; McGuigan D.; Gonzalez M.A.; Searby C.; Zuchner S.; Hou Y.M.; Antonellis A.;
Hum. Mutat. 35:1363-1371(2014)
Cited for: SUBCELLULAR LOCATION; VARIANTS CMT2D VAL-111; ASN-200; PHE-265; ARG-294; LEU-298; PHE-334; ARG-472; ASN-554; ARG-580 AND ALA-652; VARIANT LEU-635; CHARACTERIZATION OF VARIANTS CMT2D VAL-111; GLY-125; PRO-183; ASN-200; PHE-265; ARG-294; LEU-298; PHE-334; ARG-472; ASN-554; ARG-580 AND ALA-652; CHARACTERIZATION OF VARIANT LEU-635;
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Schabhuettl M.; Wieland T.; Senderek J.; Baets J.; Timmerman V.; De Jonghe P.; Reilly M.M.; Stieglbauer K.; Laich E.; Windhager R.; Erwa W.; Trajanoski S.; Strom T.M.; Auer-Grumbach M.;
J. Neurol. 261:970-982(2014)
Cited for: VARIANT HMN5A ARG-472;
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