Gene Locus : human-PPT1
Mode of mutation : Natural mutant
Disease : Infantile neuronal ceroid lipofuscinosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.(Asp79Gly) c.236A>G Exon3. Present in compound heterozygous state with the R151X mutation rs137852697, CM981627 present also alone
| Title : Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease - Huey_2024_Ophthalmol.Sci_4_100560 |
| Author(s) : Huey J , Gupta P , Wendel B , Liu T , Bharadwaj P , Schwartz H , Kelly JP , Chang I , Chao JR , Sabesan R , Nagiel A , Mustafi D |
| Ref : Ophthalmol Sci , 4 :100560 , 2024 |
| Abstract : |
| PubMedSearch : Huey_2024_Ophthalmol.Sci_4_100560 |
| PubMedID: 40206986 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis - Das_2001_Hum.Mol.Genet_10_1431 |
| Author(s) : Das AK , Lu JY , Hofmann SL |
| Ref : Hum Mol Genet , 10 :1431 , 2001 |
| Abstract : |
| PubMedSearch : Das_2001_Hum.Mol.Genet_10_1431 |
| PubMedID: 11440996 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291 |
| Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM |
| Ref : Hum Mol Genet , 7 :291 , 1998 |
| Abstract : |
| PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291 |
| PubMedID: 9425237 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S - Das_1998_J.Clin.Invest_102_361 |
| Author(s) : Das AK , Becerra CH , Yi W , Lu JY , Siakotos AN , Wisniewski KE , Hofmann SL |
| Ref : Journal of Clinical Investigation , 102 :361 , 1998 |
| Abstract : |
| PubMedSearch : Das_1998_J.Clin.Invest_102_361 |
| PubMedID: 9664077 |
| Gene_locus related to this paper: human-PPT1 |