Title : Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

Pub. Date : 2019 Nov 1

PMID : 31743939






4 Functional Relationships(s)
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1 The exome sequencing revealed a novel homozygous variant (c.296G>T) in ARL3, which is predicted to substitute an evolutionarily conserved arginine with isoleucine within the encoded protein GTP-binding domain (R99I). Arginine ADP ribosylation factor like GTPase 3 Homo sapiens
2 The exome sequencing revealed a novel homozygous variant (c.296G>T) in ARL3, which is predicted to substitute an evolutionarily conserved arginine with isoleucine within the encoded protein GTP-binding domain (R99I). Isoleucine ADP ribosylation factor like GTPase 3 Homo sapiens
3 The exome sequencing revealed a novel homozygous variant (c.296G>T) in ARL3, which is predicted to substitute an evolutionarily conserved arginine with isoleucine within the encoded protein GTP-binding domain (R99I). Guanosine Triphosphate ADP ribosylation factor like GTPase 3 Homo sapiens
4 The functional studies on the bacterial and heterologous mammalian cells revealed that the arginine at position 99 is essential for the stability of ARL3. Arginine ADP ribosylation factor like GTPase 3 Homo sapiens