Variant position: 464 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 501 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 HHGIDLEK--IKAYIDSFRFGA PPHAGGGIGLERVTMLFLGLH
Mouse HHGIDLEK--IKAYIDSFRFGA PPHAGGGIGLERVTMLFLG
Rat HHGIDLEK--IKAYIDSFRFGA PPHAGGGIGLERVTMLFLG
Bovine HHGIDLEK--IKAYIDSFRFGA PPHAGGGIGLERVTMLFLG
Caenorhabditis elegans HHQVDLAK--IQSYIDSFKYGC PPHAGGGIGLERVTMLFLG
Baker's yeast AHGLSPEDPGLKDYCDGFSYGC PPHAGGGIGLERVVMFYLD
Fission yeast ALGVSPDV-GLQQYIDAFAIGC PPHAGGGIGLERVVMFYLN
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 – 501 Aspartate--tRNA ligase, cytoplasmic
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Taft R.J.; Vanderver A.; Leventer R.J.; Damiani S.A.; Simons C.; Grimmond S.M.; Miller D.; Schmidt J.; Lockhart P.J.; Pope K.; Ru K.; Crawford J.; Rosser T.; de Coo I.F.; Juneja M.; Verma I.C.; Prabhakar P.; Blaser S.; Raiman J.; Pouwels P.J.; Bevova M.R.; Abbink T.E.; van der Knaap M.S.; Wolf N.I.;
Am. J. Hum. Genet. 92:774-780(2013)
Cited for: TISSUE SPECIFICITY; VARIANTS HBSL LEU-256; VAL-274; TYR-367; HIS-460; LEU-464; CYS-487; CYS-494 AND GLY-494;
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.