Variant position: 255 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 710 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 SLHAIVKLGIPQNTILVQTL LRVTQERINECDEICLSVLST
Mouse SLNAIVKLGIPQNTLMVQTL LRTIQERINECDERCLSILST
Rat SLNAIVKLGVPQNSLMVQTL LRTIQERISECDERCLSILST
Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.
Yoo D.H.; Choi Y.C.; Nam D.E.; Choi S.S.; Kim J.W.; Choi B.O.; Chung K.W.;
Cited for: VARIANTS COXPD44 205-ARG--GLN-710 DEL AND PRO-255;
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