Variant position: 265 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 QLDNYGQQELADLFVNYNVK SPITGNDLSPPVSFNLMFKTF
Mouse QLDNYGQQELADLFVNYNVK SPTTGNDLSPPVPFNLMFQTF
Caenorhabditis elegans RLEGFDNKDMHEVITRFNFK SPITGNDLTEPIAFNLMFPTQ
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 – 739 Glycine--tRNA ligase
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;
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
Lee H.J.; Park J.; Nakhro K.; Park J.M.; Hur Y.M.; Choi B.O.; Chung K.W.;
J. Peripher. Nerv. Syst. 17:418-421(2012)
Cited for: VARIANTS HMN5A ASN-200 AND PHE-265;
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