Disease: T1P

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
13715 Ig-87 32 A/E rs2060468649 Rees (2021) Genetic analysis of TTN in 30 CM patients; comp het with truncating; Domain unfolded in vitro None comp het with R11022* 43 0.9937 0.385 0.823 None 1.0 None 0.1457 None None N None None None None None None None