Variant position: 370 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1262 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 CPVDASGCFTTEVTDFAGQY VKDAD--KSIIRTLKEQGRLLVA
Mouse CPVDASGCFTEEVTHFVGQY VKDAD--KNIIRMLKEQGRLL
Caenorhabditis elegans CPVDESGKYTSEVPDYQGVY VKDAD--KLIIKRLKEMGNLV
Slime mold NSVDANGCFTSDVTDFAGMM VKDAETTKQISIYLKNKGRMV
Baker's yeast NAIDDLGRFTKDVPDFEGVY VKDAD--KLIIKYLTNTGNLL
Fission yeast CPVDEQGLLTSEITDFAGQY VKDAD--KEIIRSLKASGHLV
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 – 1262 Isoleucine--tRNA ligase, cytoplasmic
Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy.
Kopajtich R.; Murayama K.; Janecke A.R.; Haack T.B.; Breuer M.; Knisely A.S.; Harting I.; Ohashi T.; Okazaki Y.; Watanabe D.; Tokuzawa Y.; Kotzaeridou U.; Koelker S.; Sauer S.; Carl M.; Straub S.; Entenmann A.; Gizewski E.; Feichtinger R.G.; Mayr J.A.; Lackner K.; Strom T.M.; Meitinger T.; Mueller T.; Ohtake A.; Hoffmann G.F.; Prokisch H.; Staufner C.;
Am. J. Hum. Genet. 99:414-422(2016)
Cited for: INVOLVEMENT IN GRIDHH; VARIANTS GRIDHH GLY-370; LEU-437; ASP-992 AND ASN-1174; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
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.