Table 3.
Complement Lectin Pathway (LP) Missense Coding Variants Identified in Pediatric COVID-19 Patients | ||||||||
---|---|---|---|---|---|---|---|---|
9 Common LP Variants among the Three Study Groups | ||||||||
rsID 1 | Gene 2 | Variant Frequency-VF% (Repeats/Patients-R/P) 3 |
Encoded Mutation | |||||
Non-Admitted (N) nN = 32 |
Admitted (Y) nY = 32 |
MIS-C (M) nM = 7 |
||||||
rs7567833 | COLEC11 | 9 (3/32) | 3 (1/32) | 29 (2/7) |
H219R,
C-type lectin domain |
|||
rs532781899 | FCN3 | 13 (4/32) | 16 (5/32) | - |
L117S (Del)/
L117P (Ins), Indel |
|||
rs72549154 | MASP1/3 | 13 (4/32) | 9 (3/32) | - |
R576M,
MASP-1 Isoform 2→MASP-3 |
|||
rs12711521 | MASP2 | 84 (27/32) | 88 (28/32) | 71 (5/7) |
D371Y, Isoform 1:
364–432: CCP2 |
|||
rs139962539 | MASP2 | 3 (1/32) | 6 (2/32) | - |
T294M, Isoform 1:
184–296: CUB 2 |
|||
rs2273346 | MASP2 | 3 (1/32) | 6 (2/32) | 14 (1/7) |
V377A, Isoform 1:
364–432: CCP2 |
|||
rs72550870 | MASP2 | 9 (3/32) | 6 (2/32) | - |
D120G, Isoforms 1, 2:
16–137: CUB 1 |
|||
rs1800450 | MBL2 | 41 (13/32) | 19 (6/32) | 43 (3/7) |
G54D, 42–99:
Collagen-like domain |
|||
rs5030737 | MBL2 | 16 (5/32) | 22 (7/32) | 14 (1/7) |
R52S/R52C, 42–99:
Collagen-like domain |
|||
8 Unique LP variants in two of the three study groups | ||||||||
Non-Admitted
(N) nN = 32 |
Admitted
(Y) nY = 32 |
MIS-C
(M) nM = 7 |
||||||
rsID 1 | Gene 2 |
VF%
(R/P) 3 |
rsID 1 | Gene 2 |
VF%
(R/P) 3 |
rsID 1 | Gene 2 |
VF%
(R/P) 3 |
rs113269917 | COLEC11 | 3 (1/32) | rs148649884 | FCN1 | 3 (1/32) | N/A | ||
rs28945068 | MASP1 | 3 (1/32) | rs758432223 | MASP1 | 3 (1/32) | |||
rs147270785 | MASP2 | 6 (2/32) | rs185903926 | MASP2 | 6 (2/32) | |||
rs137974936 | MBL2 | 3 (1/32) | rs1800451 | MBL2 | 6 (2/32) |
1 Reference SNP ID, 2 NCBI Gene database, 3 Detected coding SNP frequency in each population. Corresponds to the number of times that each SNP is represented within each of our two major study group populations. In green, are the MBL2 rs1800450 coding SNPs of interest and its frequency in the admitted group. COLEC: collectin; FCN: ficolin; MASP: mannose-associated serine protease; MBL: mannose binding lectin; MIS-C: COVID-19 induced Multisystem Inflammatory Syndrome in Children (MIS-C) (CDC, HAN Archive-00432).