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. Author manuscript; available in PMC: 2023 Jan 1.
Published in final edited form as: Surv Ophthalmol. 2021 Sep 16;67(4):1099–1117. doi: 10.1016/j.survophthal.2021.09.001

Table 4 –

Genotype-phenotype characteristics of commonly associated MYOC mutations in JOAG84, 145

Amino acid change Nucleotide change Weighted Mean age at diagnosis (years) Weighted Mean Maximum recorded IOP (mmHg)
p.Gly246Arg NM_000261.1:c.736G>A 21.1 ± 6.2 31.8 ± 6.1
p.Gly252Arg NM_000261.1:c.754G>A 35 ± 7.3 31.7 ± 6.5
p.Gly364Val NM_000261.1:c.1091G >T 34 36
p.Gly367Arg NM_000261.1:c.1099G >A 26.4 ± 6.3 36.3 ± 8.1
p.Gln368Ter NM_000261.1:c.1102C >T 37.8±5.4 21.1 ± 2.4
p.Pro370Leu NM_000261.1:c.1109C >T 13.3 ± 2.4 30.9 ± 3
p.Lys423Glu NM_000261.1:c.1267A>G 28.8 ± 8.1 31.3 ± 3
p.Val426Phe NM_000261.1:c.1276G >T 18.6 ± 1.4 30.6 ± 0.8
p.Cys433Arg NM_000261.1:c.1297T>C 22.8 ± 8.9 20±6.3
p.Tyr437His NM_000261.1:c.1309T>C 21.7 ± 1.2 44.3±1
p.Asn450Tyr NM_000261.1:c.1348A>T 25.7 ± 4.3 48.3 ± 12.1
p.Ile477Asn NM_000261.2:C.1430T>A 20.7 ± 1.3 39.6 ± 1.9