Sequence-based mutation analysis BCKDHA

Subset of mutations

	Reference amino acid			Mutated amino acid			BLOSUM62	PAM1	PAM250
Position	Residue	Properties	Structure	Residue	Properties	Structure
29	G	tiny, small		E	charged, polar
125	Q	acidic, polar		E	charged, polar
166	Y	hydrophobic, aromatic, polar		N	acidic, polar, small
249	G	tiny, small		polar, small, tiny, hydroxylic
264	C	sulphur containing, hydrophobic, tiny, small, polar		W	hydrophobic, aromatic, polar
265	R	charged, positive (basic), polar		W
326	I			T
361	I			V
409	F			C
438	Y			N

PSSM

PsiBlast was run using the following command: blastpgp -i sequence.fasta -j 5 -d /data/blast/nr/nr -C profile.ckp

Polyphen2

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