Pt 1 (M; Italy)
|
c.119G > T (p.Arg40Leu)
|
2
|
Polar/CP binding domain (S1)
|
CpG dinucleotide
|
This report
|
Three HT females: mother (76 y), two nieces (13 and 22 y); HM brother (50 y); WT sister
|
Pt 2 (M; Italy and Japan)
|
c.119G > A (p.Arg40His)
|
2
|
Polar/CP binding domain (S1)
|
CpG dinucleotide; protein degradation under certain conditions; reported OTC activity 6%
|
[[17]]
|
Not performed
|
Pt 3 (M; Italy)
|
c.314G > A (p.Gly105Glu)
|
4
|
Polar/CP binding domain (turn)
|
-
|
This report
|
HT mother (43 y); HM grandfather (80 y); WT brother
|
Pt 4 (M; Italy)
|
c.622G > A (p.Ala208Thr)
|
6
|
Equatorial/ORN binding domain (H6)
|
CpG dinucleotide; reported OTC activity 4%
|
[[19]]
|
HT daughter (36 y)
|
Pt 5 (F; Italy)
|
c.829C > T (p.Arg277Trp)
|
8
|
Equatorial/ORN binding domain (H9), flexible loop
|
CpG dinucleotide; increased km for ORN; reported OTC activity 5%
|
[[20]]
|
Three HT females: mother (72 y), sister (42 y) and niece (18 y); six WT females and two WT males
|