Variant position: 155 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 985 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 GNWAFGG-EYFKEEACNMAWE LLTQVYGIPEERLWISYFDGD
Mouse GNWAFGG-EYFKEEACSMAWE LLTQVYGIPEDRLWVSYFSG
Rat GNWAFGG-EYFKKEACSMAWE LLTQVYGIPEDRLWVSYFSG
Caenorhabditis elegans GNWSFND-AFSKEEACRYAWE YLVEILGINADRLYVSYFGG
Drosophila GNWSFGD--YFKREACAMALE LLRGPYNIDPGRLYVTYFAG
Slime mold GNFSFGGYNHFKRDSIQHAWD LLTKEYGLPKERLAISVLEG
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
24 – 985 Alanine--tRNA ligase, mitochondrial
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Gotz A.; Tyynismaa H.; Euro L.; Ellonen P.; Hyotylainen T.; Ojala T.; Hamalainen R.H.; Tommiska J.; Raivio T.; Oresic M.; Karikoski R.; Tammela O.; Simola K.O.; Paetau A.; Tyni T.; Suomalainen A.;
Am. J. Hum. Genet. 88:635-642(2011)
Cited for: SUBCELLULAR LOCATION; VARIANTS COXPD8 ARG-155 AND TRP-592;
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