current
SDHA:c.1660C>T (p.Arg554Trp) AND Leigh syndrome due to mitochondrial complex II deficiency
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In 2 sibs with complex II mitochondrial respiratory chain deficiency (252011) presenting as Leigh syndrome (256000), Bourgeron et al. (1995) demonstrated a 1684C-T transition in the succinate dehydrogenase flavoprotein subunit gene in a CpG dinucleotide, resulting in an arg554-to-trp (R554W) substitution in a conserved domain of the protein. Functional expression studies in an SDH-negative yeast strain transformed with the mutant R554W protein showed decreased catalytic activity (approximately 50% of controls). The mutation was absent from 120 controls.
7550341
SDHA:c.1660C>T (p.Arg554Trp)
NM_004168.2:c.1660C>T
NG_012339.1:g.37860C>T
NC_000005.9:g.251215C>T
NP_004159.2:p.Arg554Trp
missense
R554W
ARG554TRP
5p15.3
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHA
Leigh syndrome due to mitochondrial complex II deficiency
current
Pathogenic
germline
human
not provided
curation
In 2 sibs with complex II mitochondrial respiratory chain deficiency (252011) presenting as Leigh syndrome (256000), Bourgeron et al. (1995) demonstrated a 1684C-T transition in the succinate dehydrogenase flavoprotein subunit gene in a CpG dinucleotide, resulting in an arg554-to-trp (R554W) substitution in a conserved domain of the protein. Functional expression studies in an SDH-negative yeast strain transformed with the mutant R554W protein showed decreased catalytic activity (approximately 50% of controls). The mutation was absent from 120 controls.
7550341
SDHA, ARG554TRP
ARG554TRP
SDHA
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY