Disease: CFTD

Position Domain Domain position SNV RS Source Comments MAF Zygosity Structural Position AlphaMissense (IC) REVEL Rhapsody DUET PolyPhen-2 Condel
Q(SASA)
Site annotation
mCSM PPI
Predicted PPI site
 AFR AMR EAS EUR FIN NFE SAS
82 Ig-1 77 A/D None Rees (2021) Genetic analysis of TTN in 30 CM patients; comp het with truncating; Protein unfolded; Tm 37 degrees lower than WT None comp het with R34807Sfs*7 (in trans) 158 0.9967 0.783 0.898 None 1.0 None 0.0872 None -1.93(TCAP) N None None None None None None None
5054 Ig-33 74 C/R None Rees (2021) Genetic analysis of TTN in 30 CM patients; comp het with truncating; Protein unfolded None comp het with Y24599Mfs*12 (in trans) 156 0.9971 0.758 0.899 None 1.0 None 0.0731 disulfide None N None None None None None None None
5054 Ig-33 74 C/R None gnomAD-4.0.0 None 0.00000120032 None 156 0.9971 0.758 0.899 None 1.0 None 0.0731 disulfide None N 0 0 0 None 0 1.3125E-06 0