Variant position: 430 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 SSAEFTGMTRQDAFLALTQK ARGKRVGGDVTSDKLKDWLIS
Mouse GSAEFTGMTRQDAFVALTRK ARGMRVGGHVTSNKLKDWLIS
Slime mold NSGQDTGIEF----KEFIKR LEDQQLIKRQTNYRIHDWLIS
Baker's yeast ECGEHSGVLTVVARKSIMGM LNSEGLSKSVVRYKIRDWLIS
Fission yeast --SNLMDIKQKMLQQKIVSY LEEKKLAKRVKNYRLKDWLIS
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.