Sequence-based mutation analysis BCKDHA

Subset of mutations

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

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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