Title : A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.

Pub. Date : 2021 Mar

PMID : 33457206






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Arginine at position 72 plays a role in NFS1-ISD11 complex formation; therefore, its substitution with glutamine is expected to affect complex stability and function. Arginine NFS1 cysteine desulfurase Homo sapiens