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Table 3 Summary of folliculin variants found by sequencing

From: Folliculin mutations are not associated with severe COPD

dbSNP Genomic position* mRNA position Location or ΔAA Alleles MAF phastCons Score
rs1736208 17081408 - Genomic G>A 0.25 0
rs1736209 17081210 c.-487 5' UTR G>C 0.27 0
rs41345949 17081025 c.-302 5' UTR C>T 0.06 0
rs1708629 17081022 c.-299 5' UTR A>G 0.43 0
rs41337846 17079957 c.-228+994 IVS T>C 0.14 0.0007
rs41388547 17079583 c.-228+1368 IVS C>A 0.01 0
rs8069957 17075898 c.-90 5' UTR T>C 0.01 0.001
rs1736212 17075733 c.-25+100 IVS C>G 0.27 0
rs41525346 17070156 c.396+59 IVS A>G 0.07 0
rs1736219 17068196 c.397-14 IVS A>G 0.49 0
rs2292527 17066766 c.619-66 IVS G>A 0.06 0
rs41356848 17066427 c.779+113 IVS G>A 0.05 0
rs3744124 17065540 c.871+36 IVS C>T 0.05 0
rs41462849 17065372 c.871+204 IVS T>C 0.01 0
rs41400246 17065350 c.871+226 IVS C>T 0.10 0
rs41323249 17064892 c.871+684 IVS C>T 0.13 0
rs8065832 17063052 c.1062+6 IVS A>G 0.48 0.008
rs4985705 17061393 c.1063-172 IVS C>G 0.41 0
rs4985751 17061338 c.1063-117 IVS G>A 0.02 0
rs41340844 17061077 c.1176+31 IVS C>T 0.01 0
rs41424546 17061069 c.1176+39 IVS C>T 0.10 0
rs41364753 17061040 c.1176+68 IVS C>G 0.04 0
rs41371953 17060974 c.1176+134 IVS C>G 0.04 0
rs7208065 17060929 c.1176+179 IVS C>T 0.42 0
rs34520621 17060707 c.1177-165 IVS G>A 0.04 0
rs41464156 17060450 c.1269 p.His423His G>A 0.01 0.86
rs41459448 17060441 c.1278 p.Ile426Ile G>A 0.01 0.99
rs34311146 17059414 c.1301-59 IVS G>A 0.30 0
rs41419545 17059323 c.1333 p.Ala445Thr C>T 0.01 0
rs34235236 17059167 c.1433-38 IVS T>C 0.17 0
rs41442248 17058903 c.1538+121 IVS G>A 0.01 0
  1. MAF = minor allele frequency in sequenced subjects. ΔAA = change in amino acid.
  2. Variants genotyped indicated in bold.
  3. *Referenced to chromosome 17 on the Human Mar. 2006 (hg18) assembly
  4. †Referenced to the positive strand and folliculin isoform 1 [GenBank:NM_144997]
  5. p.Gly303Arg in isoform 2 [GenBank:NM_144606]