Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33548 | 100867;100868;100869 | chr2:178536105;178536104;178536103 | chr2:179400832;179400831;179400830 |
| N2AB | 31907 | 95944;95945;95946 | chr2:178536105;178536104;178536103 | chr2:179400832;179400831;179400830 |
| N2A | 30980 | 93163;93164;93165 | chr2:178536105;178536104;178536103 | chr2:179400832;179400831;179400830 |
| N2B | 24483 | 73672;73673;73674 | chr2:178536105;178536104;178536103 | chr2:179400832;179400831;179400830 |
| Novex-1 | 24608 | 74047;74048;74049 | chr2:178536105;178536104;178536103 | chr2:179400832;179400831;179400830 |
| Novex-2 | 24675 | 74248;74249;74250 | chr2:178536105;178536104;178536103 | chr2:179400832;179400831;179400830 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 0.999 | N | 0.529 | 0.521 | 0.783563491713 | gnomAD-4.0.0 | 1.59467E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86678E-06 | 0 | 0 |
| F/L | rs773561397  |
-0.939 | 0.807 | N | 0.438 | 0.416 | 0.409124616982 | gnomAD-2.1.1 | 3.58E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-05 | 0 |
| F/L | rs773561397 |
-0.939 | 0.807 | N | 0.438 | 0.416 | 0.409124616982 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 6.32911E-03 | 2.94E-05 | 0 | 0 |
| F/L | rs773561397 |
-0.939 | 0.807 | N | 0.438 | 0.416 | 0.409124616982 | gnomAD-4.0.0 | 3.65899E-05 | None | None | None | None | I | None | 0 | 3.33489E-05 | None | 0 | 0 | None | 0 | 3.30469E-04 | 4.32656E-05 | 0 | 6.40779E-05 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9863 | likely_pathogenic | 0.9479 | pathogenic | -1.89 | Destabilizing | 0.964 | D | 0.423 | neutral | None | None | None | None | I |
| F/C | 0.9704 | likely_pathogenic | 0.8969 | pathogenic | -0.705 | Destabilizing | 0.999 | D | 0.529 | neutral | N | 0.509854611 | None | None | I |
| F/D | 0.9943 | likely_pathogenic | 0.9774 | pathogenic | -0.248 | Destabilizing | 0.998 | D | 0.579 | neutral | None | None | None | None | I |
| F/E | 0.9945 | likely_pathogenic | 0.9755 | pathogenic | -0.19 | Destabilizing | 0.983 | D | 0.582 | neutral | None | None | None | None | I |
| F/G | 0.986 | likely_pathogenic | 0.9604 | pathogenic | -2.187 | Highly Destabilizing | 0.995 | D | 0.573 | neutral | None | None | None | None | I |
| F/H | 0.972 | likely_pathogenic | 0.9126 | pathogenic | -0.397 | Destabilizing | 0.966 | D | 0.496 | neutral | None | None | None | None | I |
| F/I | 0.935 | likely_pathogenic | 0.8 | pathogenic | -1.022 | Destabilizing | 0.967 | D | 0.423 | neutral | N | 0.50573687 | None | None | I |
| F/K | 0.9911 | likely_pathogenic | 0.9698 | pathogenic | -0.796 | Destabilizing | 0.987 | D | 0.584 | neutral | None | None | None | None | I |
| F/L | 0.9925 | likely_pathogenic | 0.9733 | pathogenic | -1.022 | Destabilizing | 0.807 | D | 0.438 | neutral | N | 0.477107474 | None | None | I |
| F/M | 0.9471 | likely_pathogenic | 0.8521 | pathogenic | -0.711 | Destabilizing | 0.988 | D | 0.467 | neutral | None | None | None | None | I |
| F/N | 0.9702 | likely_pathogenic | 0.9061 | pathogenic | -0.773 | Destabilizing | 0.995 | D | 0.585 | neutral | None | None | None | None | I |
| F/P | 0.9995 | likely_pathogenic | 0.9982 | pathogenic | -1.302 | Destabilizing | 0.998 | D | 0.571 | neutral | None | None | None | None | I |
| F/Q | 0.986 | likely_pathogenic | 0.9508 | pathogenic | -0.855 | Destabilizing | 0.983 | D | 0.571 | neutral | None | None | None | None | I |
| F/R | 0.984 | likely_pathogenic | 0.9513 | pathogenic | -0.159 | Destabilizing | 0.987 | D | 0.582 | neutral | None | None | None | None | I |
| F/S | 0.9835 | likely_pathogenic | 0.9292 | pathogenic | -1.563 | Destabilizing | 0.986 | D | 0.519 | neutral | N | 0.448880723 | None | None | I |
| F/T | 0.9852 | likely_pathogenic | 0.9395 | pathogenic | -1.415 | Destabilizing | 0.995 | D | 0.525 | neutral | None | None | None | None | I |
| F/V | 0.9403 | likely_pathogenic | 0.8052 | pathogenic | -1.302 | Destabilizing | 0.858 | D | 0.461 | neutral | N | 0.490055341 | None | None | I |
| F/W | 0.9206 | likely_pathogenic | 0.8245 | pathogenic | -0.315 | Destabilizing | 0.997 | D | 0.472 | neutral | None | None | None | None | I |
| F/Y | 0.6038 | likely_pathogenic | 0.3979 | ambiguous | -0.506 | Destabilizing | 0.012 | N | 0.251 | neutral | N | 0.497560104 | None | None | I |
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.