Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 29037 | 87334;87335;87336 | chr2:178558350;178558349;178558348 | chr2:179423077;179423076;179423075 |
N2AB | 27396 | 82411;82412;82413 | chr2:178558350;178558349;178558348 | chr2:179423077;179423076;179423075 |
N2A | 26469 | 79630;79631;79632 | chr2:178558350;178558349;178558348 | chr2:179423077;179423076;179423075 |
N2B | 19972 | 60139;60140;60141 | chr2:178558350;178558349;178558348 | chr2:179423077;179423076;179423075 |
Novex-1 | 20097 | 60514;60515;60516 | chr2:178558350;178558349;178558348 | chr2:179423077;179423076;179423075 |
Novex-2 | 20164 | 60715;60716;60717 | chr2:178558350;178558349;178558348 | chr2:179423077;179423076;179423075 |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/G | None | None | 0.115 | N | 0.649 | 0.305 | 0.39798585902 | gnomAD-4.0.0 | 1.59821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78474E-05 | None | 0 | 0 | 0 | 0 | 0 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.2173 | likely_benign | 0.2224 | benign | -0.228 | Destabilizing | 0.115 | N | 0.694 | prob.delet. | N | 0.486014959 | None | None | N |
E/C | 0.8957 | likely_pathogenic | 0.8916 | pathogenic | -0.092 | Destabilizing | 0.934 | D | 0.843 | deleterious | None | None | None | None | N |
E/D | 0.0753 | likely_benign | 0.0739 | benign | -0.256 | Destabilizing | None | N | 0.248 | neutral | N | 0.392987367 | None | None | N |
E/F | 0.8848 | likely_pathogenic | 0.8802 | pathogenic | -0.123 | Destabilizing | 0.789 | D | 0.721 | deleterious | None | None | None | None | N |
E/G | 0.1895 | likely_benign | 0.1968 | benign | -0.403 | Destabilizing | 0.115 | N | 0.649 | prob.neutral | N | 0.491453228 | None | None | N |
E/H | 0.6139 | likely_pathogenic | 0.6046 | pathogenic | 0.243 | Stabilizing | 0.552 | D | 0.588 | neutral | None | None | None | None | N |
E/I | 0.6342 | likely_pathogenic | 0.6406 | pathogenic | 0.192 | Stabilizing | 0.552 | D | 0.763 | deleterious | None | None | None | None | N |
E/K | 0.3677 | ambiguous | 0.3582 | ambiguous | 0.383 | Stabilizing | 0.115 | N | 0.677 | prob.neutral | N | 0.489932291 | None | None | N |
E/L | 0.5824 | likely_pathogenic | 0.5784 | pathogenic | 0.192 | Stabilizing | 0.378 | N | 0.743 | deleterious | None | None | None | None | N |
E/M | 0.6552 | likely_pathogenic | 0.666 | pathogenic | 0.142 | Stabilizing | 0.934 | D | 0.745 | deleterious | None | None | None | None | N |
E/N | 0.2355 | likely_benign | 0.2285 | benign | 0.091 | Stabilizing | 0.08 | N | 0.692 | prob.delet. | None | None | None | None | N |
E/P | 0.5011 | ambiguous | 0.4773 | ambiguous | 0.072 | Stabilizing | 0.552 | D | 0.687 | prob.delet. | None | None | None | None | N |
E/Q | 0.2116 | likely_benign | 0.2191 | benign | 0.118 | Stabilizing | 0.115 | N | 0.602 | neutral | N | 0.484109394 | None | None | N |
E/R | 0.5329 | ambiguous | 0.5169 | ambiguous | 0.616 | Stabilizing | 0.378 | N | 0.679 | prob.neutral | None | None | None | None | N |
E/S | 0.2339 | likely_benign | 0.2381 | benign | -0.075 | Destabilizing | 0.08 | N | 0.682 | prob.neutral | None | None | None | None | N |
E/T | 0.3727 | ambiguous | 0.3789 | ambiguous | 0.071 | Stabilizing | 0.147 | N | 0.695 | prob.delet. | None | None | None | None | N |
E/V | 0.398 | ambiguous | 0.3963 | ambiguous | 0.072 | Stabilizing | 0.481 | N | 0.637 | neutral | N | 0.503316512 | None | None | N |
E/W | 0.9429 | likely_pathogenic | 0.9429 | pathogenic | 0.003 | Stabilizing | 0.934 | D | 0.868 | deleterious | None | None | None | None | N |
E/Y | 0.7293 | likely_pathogenic | 0.7125 | pathogenic | 0.119 | Stabilizing | 0.789 | D | 0.719 | prob.delet. | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.