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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99714: Variant p.Lys212Glu

3-hydroxyacyl-CoA dehydrogenase type-2
Gene: HSD17B10
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Variant information Variant position: help 212
Type of variant: help LP/P [Disclaimer]
Residue change: help From Lysine (K) to Glutamate (E) at position 212 (K212E, p.Lys212Glu).
Physico-chemical properties: help Change from large size and basic (K) to medium size and acidic (E)
BLOSUM score: help 1
Variant description: help In HSD10MD; 4-fold decrease of 3-hydroxyacyl-CoA dehydrogenase activity; decreased interaction with TRMT10C; decreased function in mitochondrial tRNA methylation; decreased function in mitochondrial tRNA processing.
Other resources: help


Sequence information Variant position: help 212
Protein sequence length: help 261
Location on the sequence: help RVMTIAPGLFGTPLLTSLPE K VCNFLASQVPFPSRLGDPAE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 261 3-hydroxyacyl-CoA dehydrogenase type-2
Binding site 201 – 201
Binding site 203 – 203
Modified residue 212 – 212 N6-acetyllysine; alternate
Modified residue 212 – 212 N6-succinyllysine; alternate



Literature citations
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
Falk M.J.; Gai X.; Shigematsu M.; Vilardo E.; Takase R.; McCormick E.; Christian T.; Place E.; Pierce E.A.; Consugar M.; Gamper H.B.; Rossmanith W.; Hou Y.M.;
RNA Biol. 13:477-485(2016)
Cited for: VARIANT HSD10MD GLU-212; FUNCTION; CATALYTIC ACTIVITY; INTERACTION WITH TRMT10C; CHARACTERIZATION OF VARIANT HSD10MD GLU-212;
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.