Variant position: 522 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 903 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 VNCSCPRCKGAAKRETDTMD TFVDSAWYYFRYTDPHNPHSP
Mouse VNCSCPRCKGSAKRETDTMD TFVDSAWYYFRYTDPHNTQSP
Slime mold KNVKCPCCGSQATRETDTMD TFVDSSWYFLRFLDSKNSQSI
Baker's yeast VNVACPSCGSPAKRETDTMD TFIDSSWYYFRFLDPKNTSKP
Fission yeast MKTTCPKCHGPATRETDTMD TFVDSSWYYFRFLDSKNSELP
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
Pierce S.B.; Gersak K.; Michaelson-Cohen R.; Walsh T.; Lee M.K.; Malach D.; Klevit R.E.; King M.C.; Levy-Lahad E.;
Am. J. Hum. Genet. 92:614-620(2013)
Cited for: VARIANTS PRLTS4 ASN-522 AND MET-629; CHARACTERIZATION OF VARIANTS PRLTS4 ASN-522 AND MET-629;
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Riley L.G.; Rudinger-Thirion J.; Schmitz-Abe K.; Thorburn D.R.; Davis R.L.; Teo J.; Arbuckle S.; Cooper S.T.; Campagna D.R.; Frugier M.; Markianos K.; Sue C.M.; Fleming M.D.; Christodoulou J.;
JIMD Rep. 28:49-57(2016)
Cited for: INVOLVEMENT IN HLASA; VARIANTS HLASA VAL-430 AND ASN-522; CHARACTERIZATION OF VARIANT HLASA VAL-430 AND ASN-522;
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.