Table 1 Identified variants in coding sequences and adjacent introns of FBLIM1, their allele frequencies in the largest group of European control individuals (gnomAD) and allele counts and frequencies in the group of CRMO and SAPHO syndrome patients as derived by i.a. individual patient data presented in Supplementary Table 3.
Position chromo-some 1 (hg19) | 16,091,760 | 16,095,031 | 16,096,893 | 16,096,934 | 16,101,217 | 16,101,332 | 16,111,014 |
|---|---|---|---|---|---|---|---|
dbSNP-ID (fre-quency of >/< 3%) | rs41310367 (rarer)# | rs140170023 (rarer) | rs12146078 (frequent) | rs10927851 (frequent) | rs41268337 (frequent) | rs114077715 (rarer)# | rs144567113 (rarer) |
Position in gene/ functional effect | intronic | coding/ synonymous | Intronic | coding/ missense | coding/ synonymous | intronic or coding/ missense | intronic |
c.250 + 32C > T (NM_001024216, NM_001024215, NM_017556) | c.251-1873G > A (NM_001024216) or c.447G > A/ p.Ala149Ala (NM_001024215, NM_017556) | c.251-11C > T (NM_001024216) or c.542-11C > T (NM_001024215, NM_017556) | c.281C > T/p. Ser94Phe (NM_001024216) or c.572C > T/ Ser191Phe (NM_001024215, NM_017556) | c.525C>T/ p.Cys175Cys (NM_001024216) or c.816C>T/p.Cys272Cys (NM_001024215, NM_017556) | c.599 + 41G > A (NM_001024216) or c.890 + 41G > A (NM_017556) or c.931G > A/ p.Gly311Arg (NM_001024215) | c.718-29C > T (NM_001024216), c.1009-29C > T (NM_017556) | |
No. of NFE alleles in gnomad | 116,018 | 62,210 | 66,198 | 66,614 | 66,672 | 125,834 | 66,454 |
C | G | C | C | C | G | C | |
Allele frequencies | 97.36% | 98.15% | 78.87% | 31.05% | 89.75% | 97.35% | 97.89% |
T | A | T | T | T | A | T | |
2.64% | 1.85% | 21.13% | 68.95% | 10.25% | 2.65% | 2.11% | |
56 patients with CRMO/SAPHO | C | G | C | C | C | G | C |
109 (97.32%) | 108 (96.43%) | 87 (77.68%) | 33 (29.46%) | 103 (91.96%) | 111 (99.11%) | 110 (98.21%) | |
Allele counts and frequencies | T | A | T | T | T | A | T |
3 (2.68%) | 4 (3.57%) | 25 (22.32%) | 79 (70.54%) | 9 (8.04%) | 1 (0.89%) | 2 (1.79%) |