NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)Pathogenic
not provided|Adenylosuccinate lyase deficiency|ADSL-related disorder
β
β
ββ2026β Residue 190
NM_000026.4(ADSL):c.807dup (p.Arg270fs)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β
β
ββ2025β Residue 270
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)Pathogenic
not provided|Progressive neurologic deterioration;Generalized myoclonic seizure;Severe global developmental delay;Difficulty standing;Inability to walk|Adenylosuccinate lyase deficiency
β
β
ββ2025β Residue 141
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)Pathogenic
Adenylosuccinate lyase deficiency|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 426
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2025β Residue 318
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2025β Residue 396
NM_000026.4(ADSL):c.1191+5G>CPathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2025
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2025β Residue 85
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2025β Residue 337
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)Pathogenic
Adenylosuccinate lyase deficiency
β
β
ββ2025β Residue 408
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β
β
ββ2025β Residue 303
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)Pathogenic
not provided|Adenylosuccinate lyase deficiency|Progressive neurologic deterioration;Generalized myoclonic seizure;Severe global developmental delay;Difficulty standing;Inability to walk|Inborn genetic diseases|ADSL-related disorder
β
β
ββ2025β Residue 114
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β
β
ββ2025β Residue 422
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β
β
ββ2025β Residue 396
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)Pathogenic
Adenylosuccinate lyase deficiency|not provided
β
β
ββ2024β Residue 190
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2024β Residue 448
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2024β Residue 365
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2024β Residue 450
NM_000026.4(ADSL):c.926G>A (p.Arg309His)Pathogenic
not provided|Adenylosuccinate lyase deficiency
β
β
ββ2024β Residue 309
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)Pathogenic
Adenylosuccinate lyase deficiency|ADSL-related disorder|not provided
β
β
ββ2024β Residue 246