Table 1 Summary of ultra-rare apelin receptor variants identified in individuals recruited to the 100,000 Genomes Project NBR

Variant	Protein location	Genomic coordinates (chr:position)	Variant type	HGVS coding sequence	Codon change	HGVS protein sequence	SIFT	Poly Phen-2
V/L38^1.42*	TM1	11:57004367	missense	112G>C	GTC →CTC	V38L	0.02	0.931
G/X45^1.49*	TM1	11:57004344	frameshift	134delG	GGC→GCΔ	G45X	n/a	n/a
D/V65^2.40	TM2	11:57004285	missense	194A>T	GAT→GTT	D65V	0.00	0.999
V/M79^2.54	TM2	11:57004244	missense	235G>A	GTG→ATG	V79M	0.00	1.000
T/M89^2.64*	TM2	11:57004213	missense	266C>T	ACG→ATG	T89M	0.00	1.000
R/H127^3.50	TM3	11:57004099	missense	380G>A	CGC→CAC	R127H	0.00	1.000
R/W139^34.55	ICL2	11:57004064	missense	415C>T	CGG→TGG	R139W	0.00	1.000
R/H168^4.64*	TM4	11:57003976	missense	503G>A	CGC→CAC	R168H	0.00	1.000
T/X227^5.64*	TM5	11:57003799	frameshift	679delA	ACC→ΔCC	T227X	n/a	n/a
R/W243^6.30	TM6	11:57003752	missense	727C>T	CGG→TGG	R243W	0.00	1.000
T/M269^6.56	TM6	11:57003673	missense	806C>T	ACG→ATG	T269M	0.00	1.000

The table summarises the variants, providing the residue sequence location and Ballesteros–Weinstein numbering, genomic co-ordinates (chromosome#:position#), the Human Genome Variation Society (HGVS) coding and apelin receptor sequence mutations codon changes. Sorting Intolerant From Tolerant (SIFT) and PolyPhen-2 scores indicate predicted deleteriousness. For SIFT, the amino acid substitution is predicted damaging if the score is ≤0.05, and tolerated if the score is >0.05. For PolyPhen-2, values closer to 1.0 are more confidently predicted to be deleterious. * in the first column indicates variants that were subsequently characterised in vitro. TM = transmembrane domain; ICL = intracellular loop; chr = chromosome; Δ = nucleotide deletion in codon. Colours indicate the missense (V/L38^1.42, blue; T/M89^2.64, red; R/H168^4.64, magenta) or frameshift (G/X45^1.49, T/X227^5.64, both yellow) variants. Six other missense variants (green) were also identified but were not further characterised in vitro.

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