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. 2021 Oct 21;2021:5067271. doi: 10.1155/2021/5067271

Table 2.

Descriptions of the four major causative genes and their variants in Korean patients with retinitis pigmentosa.

Subject no. Causative gene NM number Chromosome HGVSDNA change HGVS protein change Zygosity Inheritance Mutation type ACMG criteria
EYS-1 EYS NM_001142800.1 6 c.4957dup p.Ser1653fs Hetero AR Nonsense P PVS1PM2PP5
EYS-1 EYS NM_001142800.1 6 c.2528G>A p.Gly843Glu Hetero AR Missense LP PM1PM2PP3PP5
EYS-2 EYS NM_001142800.1 6 c.4957dup p.Ser1653fs Homo AR Nonsense P PVS1PM2PP5
EYS-3 EYS NM_001142800.1 6 c.4957dup p.Ser1653fs Hetero AR Nonsense P PVS1PM2PP5
EYS-3 EYS NM_001142800.1 6 c.7394C>G p.Thr2465Ser Hetero AR Missense VUSb PM1PM2PP3
EYS-4 EYS NM_001142800.1 6 c.4957dup p.Ser1653fs Hetero AR Nonsense P PVS1PM2PP5
EYS-4 EYS NM_001142800.1 6 c.6557G>A p.Gly2186Glu Hetero AR Missense LP PM1PM2PP3PP5
EYS-5 EYS NM_001142800.1 6 c.8805C>A p.Tyr2935Ter Hetero AR Nonsense P PVS1PM2PM5
EYS-5 EYS NM_001142800.1 6 c.6557G>A p.Gly2186Glu Hetero AR Missense LP PM1PM2PP3PP5
EYS-6 EYS NM_001142800.1 6 c.6557G>A p.Gly2186Glu Hetero AR Missense LP PM1PM2PP3PP5
EYS-6 EYS NM_001142800.1 6 c.525_527del p.Glu176del Hetero AR In-frame deletion VUSb PM3
EYS-7 EYS NM_001142800.1 6 c.2641 + 1G>A   Hetero AR   Pa PVS1PM2PP3
EYS-7 EYS NM_001142800.1 6 c.586A>C p.Lys196Gln Hetero AR Missense VUSb PM1PM2PP5
EYS-8 EYS NM_001142800.1 6 c.4957dup p.Ser1653fs Homo AR Nonsense P PVS1PM2PP5
EYS-9 EYS NM_001142800.1 6 c.8805C>A p.Tyr2935Ter Hetero AR Nonsense P PVS1PM2PP5
EYS-9 EYS NM_001142800.1 6 c.525_527del p.Glu176del Hetero AR In-frame deletion VUSb PM2PM4
EYS-10 EYS NM_001142800.1 6 c.8805C>A p.Tyr2935Ter Hetero AR Nonsense P PVS1PM2PP5
EYS-10 EYS NM_001142800.1 6 c.1963G>T p.Gly655Ter Hetero AR Nonsense Pa PVS1PPMPP3
EYS-11 EYS NM_001142800.1 6 c.4957dup p.Ser1653fs Hetero AR Nonsense P PVS1PM2PP5
EYS-11 EYS NM_001142800.1 6 c.8805C>A p.Tyr2935Ter Hetero AR Nonsense P PVS1PM2PP5
EYS-12 EYS NM_001142800.1 6 c.1963G>T p.Gly655Ter Hetero AR Nonsense P PVS1PM2PP3
EYS-12 EYS NM_001142800.1 6 c.9368delA p.Asn3123fs Hetero AR Nonsense LP PVS1PM2
EYS-13 EYS NM_001142800.1 6 c.2528G>A p.Gly843Glu Hetero AR Missense LP PM1PM2PP3PP5
EYS-13 EYS NM_001142800.1 6 c.6571 + 6T>A   Hetero AR Missense VUSa,b PM2PP3
EYS-14 EYS NM_001142800.1 6 c.2528G>A p.Gly843Glu Hetero AR Missense LP PM1PM2PP3PP5
EYS-14 EYS NM_001142800.1 6 c.7492G>C p.Ala2498Pro Hetero AR Missense VUSa,b PM1PM2PP3
EYS-14 EYS NM_001142800.1 6 c.1382G>A p.Cys461Tyr Hetero AR Missense VUSb PM2
EYS-15 EYS NM_001142800.1 6 c.4957dup p.Ser1653fs Hetero AR Nonsense P PVS1PM2PP5
EYS-15 EYS NM_001142800.1 6 c.525_527del p.Glu176del Hetero AR In-frame deletion VUS(LP) PM2PM4PM3
PDE6B-1 PDE6B NM_000283.3 6 c.1669C>T p.His557Tyr Homo AR Missense LP PM1PM2PP3PP5
PDE6B-2 PDE6B NM_000283.3 6 c.1488del p.Thr497fs Hetero AR Nonsense P PVS1PM2PP5
PDE6B-2 PDE6B NM_000283.3 6 c.1669C>T p.His557Tyr Hetero AR Missense LP PM1PM2PP3PP5
PDE6B−3∗ PDE6B NM_000283.3 6 c.2395C>T p.Arg799Ter Hetero AR Nonsense P PVS1PM2PP3PP5
PDE6B−3 PDE6B NM_000283.3 6 c.1712C>T p.Thr571Met Hetero AR Missense VUS PM1PM2PP5
PDE6B-4∗ PDE6B NM_000283.3 6 c.2395C>T p.Arg799Ter Hetero AR Nonsense P PVS1PM2PP3PP5
PDE6B-4 PDE6B NM_000283.3 6 c.1712C>T p.Thr571Met Hetero AR Missense VUS PM1PM2PP5
PDE6B-5 PDE6B NM_000283.3 6 c.1547T>C p.Leu516Pro Hetero AR Missense LP PM1PM2PP3PP5
PDE6B-5 PDE6B NM_000283.3 6 c.1669C>T p.His557Tyr Hetero AR Missense LP PM1PM2PP3PP5
PDE6B-6 PDE6B NM_000283.3 6 c.1669C>T p.His557Tyr Homo AR Missense LP PM1PM2PP3PP5
PDE6B-7 PDE6B NM_000283.3 6 c.712del p.Val238fs Hetero AR Frameshift LPa PVS1PM2
PDE6B-7 PDE6B NM_000283.3 6 c.2492C>T p.Ala831Val Hetero AR Missense VUS,b PM1PM2BP4
PDE6B-8 PDE6B NM_000283.3 6 c.1669C>T p.His557Tyr Homo AR Missense LP PM1PM2PP3PP5
PDE6B-9 PDE6B NM_000283.3 6 c.1604T>A p.Ile535Asn Homo AR Missense LP PM1PM2PP3PP5
PDE6B-10 PDE6B NM_000283.3 6 c.1669C>T p.His557Tyr Homo AR Missense LP PM1PM2PP3PP5
RP1-1 RP1 NM_006269.1 8 c.256C>A p.Pro86Thr Hetero AD/AR Missense VUSb PM1PM2PP3
RP1-2 RP1 NM_006269.1 8 c.5797C>T p.Arg1933Ter Homo AD/AR Nonsense P PVS1PM2PP3PP5
RP1-3∗ RP1 NM_006269.1 8 c.6181del p.Ile2061fs Hetero AD/AR Coding sequence variant VUS PM2PP5
RP1-4∗ RP1 NM_006269.1 8 c.6181del p.Ile2061fs Hetero AD/AR Coding sequence variant VUS PM2PP5
RP1-5 RP1 NM_006269.1 8 c.4196del p.Cys1399fs Hetero AD/AR Frameshift P PVS1PM2PP5
RP1-5 RP1 NM_006269.1 8 c.6353G>A p.Ser2118Asn Hetero   Missense VUSb PM2PP5
RP1-6 RP1 NM_006269.1 8 c.5797C>T p.Arg1933Ter Hetero AD/AR Nonsense P PVS1PM2PP3PP5
RP1-7∗ RP1 NM_006269.1 8 c.2296C>T p.Gln766Ter Hetero AD/AR Nonsense P PVS1PM2PP3
RP1-7 RP1 NM_006269.1 8 c.5913C>A p.Asn1971Lys Hetero   Missense VUS PM2BP1
RP1-8 RP1 NM_006269.1 8 c.2238_2239del p.Ser747Ter Hetero AD/AR Nonsense LP PVS1PM2
RP1-9 RP1 NM_006269.1 8 c.4196del p.Cys1399fs Hetero AD/AR Frameshift P PVS1PM2PP5
RP1-9 RP1 NM_006269.1 8 c.5797C>T p.Arg1933Ter Hetero   Nonsense P PVS1PM2PP3PP5
RP1-9 RP1 NM_006269.1 8 c.6353G>A p.Ser2118Asn Hetero   Missense VUSb PM2PP5
USHA2A-1 USH2A NM_001142800.1 1 c.8254G>A p.Gly2752Arg Hetero AR Missense LP PM1PM2PP3
USHA2A-1 USH2A NM_001142800.1 1 c.451G>C p.Ala151Pro Hetero AR Missense VUSa,b PM1PM2BP4
USHA2A-2 USH2A NM_001142800.1 1 c.6326-1G>T   Hetero AR   Pa PVS1PM2PP3
USHA2A-2 USH2A NM_001142800.1 1 c.11156G>A p.Arg3719His Hetero AR Missense VUSb PM1PM2PP5
USHA2A-3 USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-3 USH2A NM_001142800.1 1 c.11136_11137del p.Gln3714fs Hetero AR Frameshift LPa PVS1PM2
USHA2A-3 USH2A NM_001142800.1 1 c.15518T>C p.Leu5173Pro Hetero AR Missense VUSa,b PM2PP3
USHA2A-4 USH2A NM_001142800.1 1 c.8559-2A>G   Hetero AR Splice acceptor P PVS1PM2PP3PP5
USHA2A-4 USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-5∗ USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-5 USH2A NM_001142800.1 1 c.13339A>G p.Met4447Val Hetero AR Missense VUSb PM1PM2
USHA2A-6 USH2A NM_001142800.1 1 c.14287G>A p.Gly4763Arg Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-6 USH2A NM_001142800.1 1 c.1190T>A p.Ile397Lys Hetero AR Missense VUSa,b PM1PM2PP3
USHA2A-7 USH2A NM_001142800.1 1 c.7046G>A p.Trp2349Ter Hetero AR Nonsense Pa PVS1PM2PP3
USHA2A-7 USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-8 USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-8 USH2A NM_001142800.1 1 c.8254G>A p.Gly2752Arg Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-9 USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Homo AR Missense LP PM1PM2PP3PP5
USHA2A-10 USH2A NM_001142800.1 1 c.1450C>T p.Gln484Ter Hetero AR Nonsense P PVS1PM2PP3
USHA2A-10 USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-11 USH2A NM_001142800.1 1 c.9258 + 1G>T   Hetero AR Splice donor P PVS1PM2PP3PP5
USHA2A-11 USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-11 USH2A NM_001142800.1 1 c.14557A>G p.Met4853Val Hetero AR Missense VUSb PM1PM2BP4
USHA2A-12 USH2A NM_001142800.1 1 c.8559-2A>G   Hetero AR Splice acceptor P PVS1PM2PP3PP5
USHA2A-12 USH2A NM_001142800.1 1 c.2802T>G p.Cys934Trp Hetero AR Missense LP PM1PM2PP3PP5
USHA2A-12 USH2A NM_001142800.1 1 c.15178T>C p.Ser5060Pro Hetero AR Missense VUSb PM2

ACMG, American College of Medical Genetics and Genomics; HGVS, Human Genome Variation Society; P, pathogenic variant; LP, likely pathogenic variant; VUS, variant of unknown significance; AR, autosomal recessive; AD, autosomal dominant; XL, X-linked; hetero, heterozygote; homo, homozygote. ∗Patients who underwent segregation testing; anovel variants; bVUS confirmed by definitive retinitis pigmentosa phenotype.