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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P26440: Variant p.Ile199Met

Isovaleryl-CoA dehydrogenase, mitochondrial
Gene: IVD
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Variant information Variant position: help 199
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Methionine (M) at position 199 (I199M, p.Ile199Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In IVA.


Sequence information Variant position: help 199
Protein sequence length: help 426
Location on the sequence: help MKLKAEKKGNHYILNGNKFW I TNGPDADVLIVYAKTDLAAV
Residue conservation: help 
Human                         MKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAV

Mouse                         MKLKAEKKGDHYVLNGNKFWITNGPDADILVVYAKTDLTAV

Rat                           MRLKAEKKGDHYVLNGNKFWITNGPDADVLVVYAKTDLTAV

Bovine                        MKLKAEKKGDHYVLNGNKFWITNGPDADVLVVYAKTDVTAV

Caenorhabditis elegans        IRTHARRYGSDLIINGSKMWITNGDQADWACVLVNTS-NAK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 426 Isovaleryl-CoA dehydrogenase, mitochondrial
Binding site 198 – 200
Beta strand 187 – 200



Literature citations
Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.
Bei F.; Sun J.H.; Yu Y.G.; Jia J.; Zheng Z.J.; Fu Q.H.; Cai W.;
Gene 524:396-400(2013)
Cited for: VARIANT IVA MET-199;
Disclaimer: 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.