Disease: LVNC

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
178 Ig-2 75 A/D None Hastings (2016) Jiang (2021) Linkage analysis in single 3-generation DCM family, co-segregates with condition (n = 8, 8 affected (14 total)); features of LVNC; domain destabilisation and impaired TCAP binding in vitro; knock-in mice mutant show phenotype under challenge conditions None het 158 0.9987 0.833 0.571 -3.04 0.993 None 0.0809 None -1.921(TCAP) N None None None None None None None