Table 1 HECT genes variants in a cohort of 130 SARS-CoV-2 positive patients (MAF < 0.01 in GnomAD v2.1.1; in bold p < 0.05).
From: Inhibition of HECT E3 ligases as potential therapy for COVID-19
Gene | Genetic form | Genotype | dbSNP | Consequence | AF GnomAD | Gender | Age [years] | p-value | Outcome |
---|---|---|---|---|---|---|---|---|---|
HECW1 | Known | A1332T/WT | rs200973212 | missense | 0.0000161 | M | 54 | 0.0114 | Survived |
Known | E502Q/WT | rs61756576 | missense | 0.0025630 | M | 83 | 0.5801 | Deceased | |
Known | N1265S/WT | rs200912368 | missense | 0.0017820 | F | 50 | 0.4656 | Survived | |
HECW2 | Known | S559G/WT | rs779373864 | missense | 0.0000085 | M | 59 | 0.0072 | Survived |
Known | N417S/WT | rs138998510 | missense | 0.0005529 | M | 54 | 0.0791 | Survived | |
Known | A537P/WT | rs750339715 | missense | 0.0000121 | F | 93 | 0.0092 | Deceased | |
NEDD4 | Known | N888K/WT | rs759199057 | missense | 0.0000119 | M | 59 | 0.01 | Survived |
Known | G451A/WT | rs60811367 | missense | 0.0017470 | M | 54 | 0.0013 | Survived | |
M | 39 | Deceased | |||||||
Known | I1237T/WT | rs373718024 | missense | 0.0003550 | M | 47 | 0.0159 | Deceased | |
Known | R877Q/WT | rs201295772 | missense | 0.0000958 | M | 83 | 0.03176 | Deceased | |
Known | I843R/WT | rs375088434 | missense | 0.0000199 | F | 77 | 0.0091 | Deceased | |
Known | T727I/WT | rs61754989 | missense | 0.0036830 | F | 72 | 1 | Deceased | |
Known | D129N/WT | rs150886795 | missense | 0.0002875 | M | 61 | 0.1233 | Deceased | |
Known | S29R/WT | rs115484917 | missense | 0.0026250 | M | 39 | 0.1555 | Deceased | |
NEDD4L | Known | c.698C>T/WT | rs202231187 | missense | 0.0039100 | M | 73 | 1 | Survived |
Known | c.1258-5A>C/WT | rs768158353 | splicing | 0.0000853 | M | 64 | 0.0141 | Deceased | |
Known | c.698C>T/WT | rs202231187 | missense | 0.0039100 | M | 54 | 1 | Deceased | |
SMURF1 | Known | R564Q/WT | rs182340234 | missense | 0.0000199 | F | 52 | 0.0068 | Survived |
Known | T223M/WT | rs371859465 | missense | 0.0000805 | F | 80 | 0.022 | Survived | |
SMURF2 | Known | G10E/WT | rs866321574 | missense | 0.0061730 | F | 36 | 0.1166 | Survived |
M | 73 | Deceased | |||||||
Known | I142V/WT | rs145845053 | missense | 0.0005564 | M | 14 | 0.1281 | Survived | |
WWP1 | Known | c.2395-4C>T/WT | rs188228045 | splicing | 0.0000040 | F | 89 | 1 | Deceased |
Known | c.540-5T>C/WT | rs187132881 | splicing | 0.0023640 | F | 83 | 0.5073 | Deceased | |
Known | c.1836G>A/WT | rs150841032 | splicing | 0.0002012 | M | 76 | 0.1019 | Deceased | |
WWP2 | Known | R803C/WT | rs747018644 | missense | 0.0000043 | M | 54 | 0.0049 | Survived |
New | M114I/WT | rs377573067 | splicing | / | F | 83 | / | Deceased |