Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
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 :
novel compound heterozygous variants, including a novel c.1495A>G (p.Met499Val) variant in exon 14 of SERAC1 inherited from the father and a novel c.721_722delAG (p.Leu242fs) variant in exon 8 inherited from the mother
| Title : Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family - Yan_2022_Front.Pediatr_9_816265 |
| Author(s) : Yan D , Chen S , Cai F , Shu J , Zhi X , Zheng J , Zhang C , Li D , Cai C |
| Ref : Front Pediatr , 9 :816265 , 2022 |
| Abstract : |
| PubMedSearch : Yan_2022_Front.Pediatr_9_816265 |
| PubMedID: 35223715 |
| Gene_locus related to this paper: human-SERAC1 |