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.(Trp38CysfsTer12) c.114delG Exon 1 Frameshift
| Title : Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL) - Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89 |
| Author(s) : Thirumal Kumar D , Shaikh N , Udhaya Kumar S , George Priya Doss C |
| Ref : Advances in Protein Chemistry Struct Biol , 132 :89 , 2022 |
| Abstract : |
| PubMedSearch : Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89 |
| PubMedID: 36088080 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses - Kousi_2012_Hum.Mutat_33_42 |
| Author(s) : Kousi M , Lehesjoki AE , Mole SE |
| Ref : Hum Mutat , 33 :42 , 2012 |
| Abstract : |
| PubMedSearch : Kousi_2012_Hum.Mutat_33_42 |
| PubMedID: 21990111 |
| Gene_locus related to this paper: human-PPT1 |