Sequence information
Variant position: 134 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:
IYDLKDQGGELLSLRYDLTV
P FARYLAMNKLTNIKRYHIAK
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 IYDLKDQGGELLSLRYDLTVP FARYLAMNKLTNIKRYHIAK
Mouse IYDLKDQGGELLSLRYDLTVP FARYLAMNKLTNIKRYHIAK
Bovine IYDLKDQGGELLSLRYDLTVP FARYLAMNKLTNIKRYHIAK
Zebrafish IYDLKDQGGELLSLRYDLTVP FARYLAMNKITNIKRYHIAK
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
Chain
2 – 509
Histidine--tRNA ligase, cytoplasmic
Helix
132 – 141
Literature citations
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Safka Brozkova D.; Deconinck T.; Griffin L.B.; Ferbert A.; Haberlova J.; Mazanec R.; Lassuthova P.; Roth C.; Pilunthanakul T.; Rautenstrauss B.; Janecke A.R.; Zavadakova P.; Chrast R.; Rivolta C.; Zuchner S.; Antonellis A.; Beg A.A.; De Jonghe P.; Senderek J.; Seeman P.; Baets J.;
Brain 138:2161-2172(2015)
Cited for: FUNCTION; INVOLVEMENT IN CMT2W; VARIANTS CMT2W ILE-132; HIS-134; GLU-175 AND TYR-364; CHARACTERIZATION OF VARIANTS CMT2W ILE-132; HIS-134; GLU-175 AND TYR-364;
Disclaimer:
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.