Table 3.
Repartition of location and occurrence of the HGD variants
| VARIANTa,b | Number of times detectedc (#) | Frequency (%) | #/% per exon | |||
|---|---|---|---|---|---|---|
| # | Nucleotide modification | Protein effect | ||||
| Ex1 | 1 | c.8A>C | p.E3A | 1 | 0.64 | 4/2.5 |
| 2 | c.11T>C | p.L4S | 2 | 1.27 | ||
| 3 | c.11T>A | p.L4X | 1 | 0.64 | ||
| Ex2 | 4 | c.16-1G>A | Exon skipping | 2 | 1.27 | 2/1.3 |
| 5 | c.32_33delGGinsATT | p.G11DfsX2 | ND | 0 | ||
| 6 | c.74T>C | p.L25P | ND | 0 | ||
| Ex3 | 7 | c.125A>C | p.E42A | 6 | 3.82 | 17/10.8 |
| 8 | c.140C>T | pS47L | ND | 0 | ||
| 9 | c.157C>T | p.R53W | ND | 0 | ||
| 10 | c.171G>C | p.K57N | ND | 0 | ||
| 11 | c.174delA | p.S59AfsX52 | 11 | 7.01 | ||
| 12 | c.?d | p.S59X | ND | 0 | ||
| Ex4 | 13 | c.177-2G>Ae | Exon skipping | ND | 0 | 7/4.5 |
| 14 | c.178T>G | p.W60G | 2 | 1.27 | ||
| 15 | c.182T>C | p.L61P | 2 | 1.27 | ||
| 16 | c.185A>G | p.Y62C | 1 | 0.64 | ||
| 17 | c.217T>C | p.F73L | 1 | 0.64 | ||
| 18 | c.274C>A | p.P92T | 1 | 0.64 | ||
| Ex5 | 19 | c.289T>C | p.W97R | 2 | 1.27 | 9/5.7 |
| 20 | c.289T>G | p.W97G | ND | 0 | ||
| 21 | c.342+1G>T | Exon skipping | 6 | 3.82 | ||
| 22 | c.342+1G>A | Exon skipping | 1 | 0.64 | ||
| Ex6 | 23 | c.357dupG | p.C120VfsX9 | ND | 0 | 24/15.3 |
| 24 | c.359G>T | p.C120F | 10 | 6.37 | ||
| 25 | c.360T>G | p.C120W | 2 | 1.27 | ||
| 26 | c.365C>T | p.A122V | 3 | 1.91 | ||
| 27 | c.365C>A | p.A122D | ND | 0 | ||
| 28 | c.367G>A | p.G123R | 2 | 1.27 | ||
| 29 | c.376_377delAA | p.K126VfsX2 | 2 | 1.27 | ||
| 30 | c.407T>A | p.F136Y | ND | 0 | ||
| 31 | c.410T>C | p.L137P | 3 | 1.91 | ||
| 32 | c.429G>?d | p.E143D | ND | 0 | ||
| 33 | c.413_434+35del57 | Exon skipping | 2 | 1.27 | ||
| 34 | c.433A>T | p.R145X | ND | 0 | ||
| Ex7 | 35 | c.447T>A | p.N149K | 1 | 0.64 | 5/3.2 |
| 36 | c.457dupG | p.D153GfsX26 | 3 | 1.91 | ||
| 37 | c.458A>G | p.D153G | ND | 0 | ||
| 38 | c.468+2T>C | Exon skipping | 1 | 0.64 | ||
| 39 | c.468+5G>A | Exon skipping | ND | 0 | ||
| Ex8 | 40 | c.473C>T | p.P158L | 1 | 0.64 | 23/14.7 |
| 41 | c.473C>G | p.P158R | ND | 0 | ||
| 42 | c.477G>?d | p.Q159H | ND | 0 | ||
| 43 | c.481G>A | p.G161R | 10 | 6.37 | ||
| 44 | c.502G>A | p.E168K | 5 | 3.18 | ||
| 45 | c.502G>T | p.E168X | 1 | 0.64 | ||
| 46 | c.504G>C | p.E168D | 4 | 2.55 | ||
| 47 | c.513G>?d | p.K171N | ND | 0 | ||
| 48 | c.534G>?d | p.E178D | ND | 0 | ||
| 49 | c.541G>T | p.V181F | ND | 0 | ||
| 50 | c.549G>T | p.Q183R | 1 | 0.64 | ||
| 51 | c.549+1G>A | Exon skipping | 1 | 0.64 | ||
| Ex9 | 52 | c.550-2A>C | Exon skipping | ND | 0 | 2/1.3 |
| 53 | c.559C>G | p.R187G | 1 | 0.64 | ||
| 54 | c.566G>T | p.S189I | ND | 0 | ||
| 55 | c.588delC | p.R197GfsX32 | ND | 0 | ||
| 56 | c.593G>A | p.G198D | ND | 0 | ||
| 57 | c.647T>C | p.I216T | ND | 0 | ||
| 58 | c.649G>T | p.G217W | 1 | 0.64 | ||
| Ex10 | 59 | c.650-56G>A | Exon skipping | ND | 0 | 5/3.2 |
| 60 | c.650-17G>A | Exon skipping | ND | 0 | ||
| 61 | c.674G>T | p.R225L | 1 | 0.64 | ||
| 62 | c.674G>A | p.R225H | ND | 0 | ||
| 63 | c.680T>C | p.F227S | ND | 0 | ||
| 64 | c.688C>T | p.P230S | 2 | 1.27 | ||
| 65 | c.688C>A | p.P230T | ND | 0 | ||
| 66 | c.743A>G | p.K248R | ND | 0 | ||
| 67 | c.773A>C | p.Q258P | 2 | 1.27 | ||
| Ex11 | 68 | c.806A>G | p.H269R | 1 | 0.64 | 3/1.9 |
| 69 | c.808G>A | p.G270R | 2 | 1.27 | ||
| 70 | c.873C>A | p.D291E | ND | 0 | ||
| 71 | c.875A>G | p.H292R | ND | 0 | ||
| Ex12 | 72 | c.899T>G | p.V300G | 4 | 2.55 | 7/4.5 |
| 73 | c.914C>T | p.S305F | 1 | 0.64 | ||
| 74 | c.961C>T | p.R321X | ND | 0 | ||
| 75 | c.962G>A | p.R321P | 1 | 0.64 | ||
| 76 | c.964T>C | p.W322R | ND | 0 | ||
| 77 | c.990G>T | p.R330S | ND | 0 | ||
| 78 | c.1006+2T>A | Exon skipping | 1 | 0.64 | ||
| Ex13 | 79 | c.1007-2A>T | Exon skipping | 2 | 1.27 | 46/29.3 |
| 80 | c.1016delT | p.M339RfsX30 | ND | 0 | ||
| 81 | c.1017_1019delGAGinsTA | p.M339IfsX30 | 5 | 3.18 | ||
| 82 | c.1076C>T | p.P359L | 1 | 0.64 | ||
| 83 | c.1078G>C | p.G360R | 8 | 5.1 | ||
| 84 | c.1085G>A | p.G362E | 1 | 0.64 | ||
| 85 | c.1102A>G | p.M368V | 26 | 16.56 | ||
| 86 | c.1111dupC | p.H371PfsX4 | 2 | 1.27 | ||
| 87 | c.1112A>G | p.H371R | ND | 0 | ||
| 88 | c.1118C>T | p.P373L | 1 | 0.64 | ||
| 89 | c.1188+1G>T | Exon skipping | ND | 0 | ||
| Ex14 | 90 | c.1201G>C | p.E401Q | 1 | 0.64 | 3/1.9 |
| 91 | c.1336T>C | p.X446RextX24 | 2 | 1.27 | ||
| Total | 157 | 100 | 157/100 | |||
a
DNA variant numbering system is based on cDNA (NM_000187.2), with +1 corresponding to the A of the ATG. The initiation codon is codon 1
b
Novel variant
c
ND: Not detected in our cohort
d
Exact nucleotide change was not indicated and not reconstructable
e
Published nucleotide change is inconsistent with gene sequence