Journal of Immunology Research

Review Article

RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease

Table 1

Molecular findings in RANKL-dependent ARO patients.


Patient	Genomic change^a	cDNA change^b	Protein change/effect^c

S1	g.38250_38253delAGCT g.38250_38253delAGCT	c.532+4_532+8delAGCT c.532+4_532+8delAGCT	r.434_532del r.434_532del
S2A and S2B	g.43825T>A g.43825T>A	c.596T>A c.596T>A	p.Met199Lys p.Met199Lys
S3A and S3B	g.44057_44058delCG g.44057_44058delCG	c.828_829delCG c.828_829delCG	p.Val277TrpfsX5 p.Val277TrpfsX5
S4	g.43825T>A g.43825T>A	c.596T>A c.596T>A	p.Met199Lys p.Met199Lys
S5	g.43825T>A g.43825T>A	c.596T>A c.596T>A	p.Met199Lys p.Met199Lys
S6	g.43825T>A g.43825T>A	c.596T>A c.596T>A	p.Met199Lys p.Met199Lys
S7	g.43896C>T g.43896C>T	c.667C>T c.667C>T	p.Arg223X p.Arg223X

Accession number genomic sequence of the RANKL gene: NG_008990.1.
^bAccession number of the RANKL transcript variant 1: NM_003701.3; the numbering used starts with nucleotide +1 for the A of the ATG-translation initiation codon.
^cAccession number of the RANKL protein isoform 1: NP_003692.1.