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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P26440: Variant p.Val374Ala

Isovaleryl-CoA dehydrogenase, mitochondrial
Gene: IVD
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Variant information Variant position: help 374
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Alanine (A) at position 374 (V374A, p.Val374Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A)
BLOSUM score: help 0
Variant description: help In IVA.
Other resources: help


Sequence information Variant position: help 374
Protein sequence length: help 426
Location on the sequence: help HCTAKDCAGVILYSAECATQ V ALDGIQCFGGNGYINDFPMG
Residue conservation: help 
Human                         HCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMG

Mouse                         HIIPKDCAGVILYAAECATQVALDGIQCLGGNGYINDFPMG

Rat                           HITAKDCAGVILYTAECATQVALDGIQCLGGNGYINDFPMG

Bovine                        HCTTKDCAGVILYSAECATQVALDGIQCLGGNGYINDFPMG

Caenorhabditis elegans        EDVSMLTAMAKLKIGRLARKVTDQCLQIWGGAGYLNDNGIS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 426 Isovaleryl-CoA dehydrogenase, mitochondrial
Helix 357 – 382



Literature citations
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.
Mohsen A.-W.A.; Anderson B.D.; Volchenboum S.L.; Battaile K.P.; Tiffany K.A.; Roberts D.L.; Kim J.-J.P.; Vockley J.;
Biochemistry 37:10325-10335(1998)
Cited for: VARIANTS IVA PRO-53; ASN-72; VAL-314; ARG-360; ALA-374; CYS-395 AND LEU-414;
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.