Variant position: 368 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 506 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 AGEEPLNVG-SVAAGGRYDGL VGMFDPKGHKV-PCVGLSIGVE
Mouse AGKETLSVG-SVAAGGRYDNL VAQFDPKGHHV-PCVGLSIG
Bovine AEEEPLNMG-SVAAGGRYDGL VGMFDPRGHKV-PCVGLSIG
Slime mold RQQQQQQQGLAILGGGRYDGL ANQLGYKYKEILPSIGWASG
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
34 – 506 Histidine--tRNA ligase, mitochondrial
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
Pierce S.B.; Chisholm K.M.; Lynch E.D.; Lee M.K.; Walsh T.; Opitz J.M.; Li W.; Klevit R.E.; King M.C.;
Proc. Natl. Acad. Sci. U.S.A. 108:6543-6548(2011)
Cited for: VARIANTS PRLTS2 VAL-200 AND LEU-368; CHARACTERIZATION OF VARIANTS PRLTS2 VAL-200 AND LEU-368; SUBUNIT; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY; FUNCTION;
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.