Variant position: 137 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 509 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 LKDQGGELLSLRYDLTVPFA RYLAMNKLTNIKRYHIAKVYR
Mouse LKDQGGELLSLRYDLTVPFA RYLAMNKLTNIKRYHIAKVYR
Bovine LKDQGGELLSLRYDLTVPFA RYLAMNKLTNIKRYHIAKVYR
Slime mold LQDQGGEICSLRYDLTVPFA RYVAMNGVLNIKRYHIARVYR
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
2 – 509 Histidine--tRNA ligase, cytoplasmic
157 – 157 L-histidine
132 – 141
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Vester A.; Velez-Ruiz G.; McLaughlin H.M.; Lupski J.R.; Talbot K.; Vance J.M.; Zuchner S.; Roda R.H.; Fischbeck K.H.; Biesecker L.G.; Nicholson G.; Beg A.A.; Antonellis A.;
Hum. Mutat. 34:191-199(2013)
Cited for: INVOLVEMENT IN CMT2W; VARIANTS GLU-5; ASP-205 AND ARG-376; VARIANTS CMT2W GLN-137; ALA-238 AND SER-505; CHARACTERIZATION OF VARIANT CMT2W GLN-137;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.