current
HADHB:c.788A>G (p.Asp263Gly) AND Mitochondrial trifunctional protein deficiency
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a patient with trifunctional protein deficiency (609015), Ushikubo et al. (1996) found probable homozygosity for an A-to-G transition at nucleotide 788 of the HADHB gene predicted to cause a substitution of glycine for aspartic acid-263. The mutation was presumed to be homozygous. The patient had been previously reported by Kamijo et al. (1994).
8651282
8163672
HADHB:c.788A>G (p.Asp263Gly)
NM_000183.2:c.788A>G
NG_007294.1:g.39340A>G
NC_000002.11:g.26502160A>G
NP_000174.1:p.Asp263Gly
missense
D263G
ASP263GLY
2p23
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HADHB
Mitochondrial trifunctional protein deficiency
Trifunctional protein deficiency type 1
Trifunctional protein deficiency
TFP
Autosomal recessive inheritance
Childhood
current
pathogenic
germline
human
not provided
curation
In a patient with trifunctional protein deficiency (609015), Ushikubo et al. (1996) found probable homozygosity for an A-to-G transition at nucleotide 788 of the HADHB gene predicted to cause a substitution of glycine for aspartic acid-263. The mutation was presumed to be homozygous. The patient had been previously reported by Kamijo et al. (1994).
8651282
8163672
HADHB, ASP263GLY
ASP263GLY
HADHB
TRIFUNCTIONAL PROTEIN DEFICIENCY