current
HMGCS2:c.520T>C (p.Phe174Leu) AND mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a patient with HMG-CoA synthase deficiency (605911) described by Thompson et al. (1997), Bouchard et al. (2001) identified a T-to-C substitution at nucleotide 520 of the HMGCS2 gene, resulting in a phenylalanine-to-leucine substitution at codon 174 (F174L). This mutation was found in homozygosity; both parents were carriers. When expressed in bacteria, the F174L mutation resulted in a mitochondrial HMG-CoA synthase polypeptide with no detectable activity.
9337379
11228257
HMGCS2:c.520T>C (p.Phe174Leu)
LRG_447t1:c.520T>C
LRG_447t2:c.520T>C
NM_005518.3:c.520T>C
NM_001166107.1:c.520T>C
LRG_447:g.9722T>C
NG_013348.1:g.9722T>C
NC_000001.10:g.120306834A>G
NP_001159579.1:p.Phe174Leu
NP_005509.1:p.Phe174Leu
missense
missense
F174L
PHE174LEU
1p12
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
HMGCS2
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HMGCS2 DEFICIENCY
MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
Childhood
<1 / 1 000 000
current
Pathogenic
germline
human
not provided
curation
In a patient with HMG-CoA synthase deficiency (605911) described by Thompson et al. (1997), Bouchard et al. (2001) identified a T-to-C substitution at nucleotide 520 of the HMGCS2 gene, resulting in a phenylalanine-to-leucine substitution at codon 174 (F174L). This mutation was found in homozygosity; both parents were carriers. When expressed in bacteria, the F174L mutation resulted in a mitochondrial HMG-CoA synthase polypeptide with no detectable activity.
9337379
11228257
HMGCS2, PHE174LEU
PHE174LEU
HMGCS2
MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY