From: Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
Patients | Gene | c.DNA position | Exon | Effect on protein | Type of variants | Location of mutation allele | Parental derivation | Variants pathogenicity | Evidence of pathogenicity |
---|---|---|---|---|---|---|---|---|---|
P1 | SGCA | c.101G > Aa | Exon 2 | p.R34H | Missense | Extracellular | Maternal | Pathogenic |  |
 | SGCA | c.218C > Gb | Exon 3 | p.P73R | Missense | Extracellular | Paternal | Likely pathogenic | PM1, PM2, PM3, PP1, PP3, PP4 |
 | PMP22 | Exons 1–5 duplicationa | Exons 1–5 | – | Large duplication | – | NA | Pathogenic |  |
P2 | SGCA | c.158-10_160delb | Intron 2, Exon 3 | – | Splicing# | Extracellular | Maternal | Likely pathogenic | PM2, PM3, PP1, PP3, PP4 |
 | SGCA | c.662G > Aa | Exon 6 | p.R221H | Missense | Extracellular | Paternal | Pathogenic |  |
P3 | SGCA | c.662G > Aa | Exon 6 | p.R221H | Missense | Extracellular | NA | Pathogenic |  |
P4 | SGCA | c.313-2A > Ga | Intron 3 | NA | Splicing | Extracellular | Maternal | Pathogenic |  |
 | SGCA | c.95 T > Ca | Exon 2 | p.V32A | Missense | Extracellular | Paternal | Pathogenic |  |
P5 | SGCA | c.424A > Ga | Exon 5 | p.S142G | Missense | Extracellular | NA | Pathogenic |  |
P6 | SGCA | c.889delCa | Exon 7 | p.L298Cfs*23 | Frameshift | TM | Maternal | Pathogenic | Â |
 | SGCA | c.292C > Ta | Exon 3 | p.R98C | Missense | Extracellular | Paternal | Pathogenic |  |
P7 | SGCA | c.409G > Ca | Exon 5 | p.E137Q | Missense | Extracellular | Maternal | Pathogenic |  |
 | SGCA | c.95 T > Ca | Exon 2 | p.V32A | Missense | Extracellular | Paternal | Pathogenic |  |
P8 | SGCA | c.661C > Ta | Exon 6 | p.R221C | Missense | Extracellular | Maternal | Pathogenic |  |
 | SGCA | c.320C > Ta | Exon 4 | p.A107V | Missense | Extracellular | Paternal | Pathogenic |  |
P9 | SGCA | c.233_234delinsGAa | Exon 3 | p.Y78* | Nonsense | Extracellular | Maternal | Pathogenic | Â |
 | SGCA | c.371 T > Ca | Exon 4 | p.I124T | Missense | Extracellular | Paternal | Pathogenic |  |
P10 | SGCA | Exons 1–7 duplicationb | Exons 1–7 | – | Large duplication | Singal peptide + Extracellular + TM + Intracellular | Maternal | Pathogenic | PVS1, PM3, PP1, PP4 |
 | SGCA | c.229C > Ta | Exon 3 | p.R77C | Missense | Extracellular | Paternal | Pathogenic |  |
P11 | SGCA | Exons 4–8 deletionb | Exons 4–8 | – | Large deletion | Extracellular + TM + Intracellular | Maternal | Pathogenic | PVS1, PM3, PP1, PP4 |
 | SGCA | c.234C > Ab | Exon 3 | p.Y78* | Nonsense | Extracellular | Paternal | Pathogenic | PVS1, PM2, PP4 |
P12 | SGCA | c.956 + 2 T > Ca | Intron 7 | – | Splicing | Intracellular | Maternal | Pathogenic |  |
 | SGCA | c.662G > Aa | Exon 6 | p.R221H | Missense | Extracellular | Paternal | Pathogenic |  |
P13 | SGCA | c.427C > Tb | Exon 5 | p.H143Y | Missense | Extracellular | Maternal | Likely pathogenic | PM2, PM3, PP1, PP3, PP4 |
 | SGCA | c.229C > Ta | Exon 3 | p.R77C | Missense | Extracellular | Paternal | Pathogenic |  |
P14 | SGCA | c.662G > Aa | Exon 6 | p.R221H | Missense | Extracellular | Maternal | Pathogenic |  |
 | SGCA | c.956G > Ab | Exon 7 | p.R319K | Missense | Intracellular | Paternal | Likely pathogenic | PM2, PM3, PP1, PP4 |
P15 | SGCA | Exons 7–8 deletiona | Exons 7–8 | – | Large deletion | TM + Intracellular | Maternal | Pathogenic |  |
 | SGCA | c.218C > Tb | Exon 3 | p.P73L | Missense | Extracellular | Paternal | Likely pathogenic | PM1, PM2, PM3, PP1, PP3, PP4 |
P16 | SGCA | c.1A > Gb (hom) | Exon 1 | p.0? | Init-loss | Singal peptide | Maternal/Paternal | Pathogenic | PVS1, PM2, PP1, PP3, PP4 |
P17 | SGCA | c.662G > Aa | Exon 6 | p.R221H | Missense | Extracellular | Maternal | Pathogenic |  |
 | SGCA | c.95 T > Ca | Exon 2 | p.V32A | Missense | Extracellular | Paternal | Pathogenic |  |
P18 | SGCA | c.409G > Aa | Exon 5 | p.E137K | Missense | Extracellular | Maternal | Pathogenic |  |
 | SGCA | c.687delTb | Exon 6 | p.L230Cfs*18 | Frameshift | Extracellular | Paternal | Pathogenic | PVS1, PM2, PM3, PP1, PP4 |
P19 | SGCB | c.551A > Ga | Exon 4 | p.Y184C | Missense | Extracellular | Maternal | Pathogenic |  |
 | SGCB | Exons 5–6 deletionb | Exons 5–6 | – | Large deletion | Extracellular | Paternal | Pathogenic | PVS1, PM3, PP1, PP4 |
P20 | SGCB | c.334C > Ta | Exon 3 | p.Q112* | Nonsense | Extracellular | Paternal | Pathogenic |  |
P21 | SGCB | c.29_33delAACAGb (hom) | Exon 1 | p.E10Afs*13 | Frameshift | Intracellular | Maternal/Paternal | Pathogenic | PVS1, PM2, PP1, PP4 |
P22 | SGCB | c.273_292delb (hom) | Exon 3 | p.I92* | Frameshift | TM | NA | Pathogenic | PVS1, PM2, PP4 |
P23 | SGCB | c.29_33delAACAGb | Exon 1 | p.E10Afs*13 | Frameshift | Intracellular | Maternal | Pathogenic | PVS1, PM2, PP1, PP4 |
 | SGCB | c.366_367delTTb | Exon 3 | p.Y123* | Frameshift | Extracellular | Paternal | Pathogenic | PVS1, PM2, PP1, PP4 |
P24 | SGCB | c.543C > Ab | Exon 4 | p.S181R | Missense | Extracellular | Maternal | Likely pathogenic | PS1, PM2, PP3, PP4 |
P25 | SGCG | c.320C > Tb (hom) | Exon 4 | p.S107 L | Missense | Extracellular | Maternal/Paternal | Likely pathogenic | PM2, PM3, PP1, PP3, PP4 |