Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26978 | 81157;81158;81159 | chr2:178565200;178565199;178565198 | chr2:179429927;179429926;179429925 |
| N2AB | 25337 | 76234;76235;76236 | chr2:178565200;178565199;178565198 | chr2:179429927;179429926;179429925 |
| N2A | 24410 | 73453;73454;73455 | chr2:178565200;178565199;178565198 | chr2:179429927;179429926;179429925 |
| N2B | 17913 | 53962;53963;53964 | chr2:178565200;178565199;178565198 | chr2:179429927;179429926;179429925 |
| Novex-1 | 18038 | 54337;54338;54339 | chr2:178565200;178565199;178565198 | chr2:179429927;179429926;179429925 |
| Novex-2 | 18105 | 54538;54539;54540 | chr2:178565200;178565199;178565198 | chr2:179429927;179429926;179429925 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.641 | 0.436 | 0.1749357433 | gnomAD-4.0.0 | 1.59182E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5219 | ambiguous | 0.4638 | ambiguous | -0.376 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.507312085 | None | None | N |
| G/C | 0.8347 | likely_pathogenic | 0.7996 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.50071617 | None | None | N |
| G/D | 0.9106 | likely_pathogenic | 0.9021 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.461781727 | None | None | N |
| G/E | 0.9057 | likely_pathogenic | 0.8977 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/F | 0.9516 | likely_pathogenic | 0.9456 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/H | 0.9737 | likely_pathogenic | 0.9681 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/I | 0.9306 | likely_pathogenic | 0.9283 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/K | 0.9672 | likely_pathogenic | 0.9679 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/L | 0.9249 | likely_pathogenic | 0.9104 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/M | 0.961 | likely_pathogenic | 0.9523 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/N | 0.9393 | likely_pathogenic | 0.9319 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/P | 0.88 | likely_pathogenic | 0.8354 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Q | 0.9545 | likely_pathogenic | 0.9492 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/R | 0.9526 | likely_pathogenic | 0.953 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.488092417 | None | None | N |
| G/S | 0.5585 | ambiguous | 0.5154 | ambiguous | -0.859 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.470215198 | None | None | N |
| G/T | 0.8635 | likely_pathogenic | 0.845 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/V | 0.9 | likely_pathogenic | 0.8917 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.507971098 | None | None | N |
| G/W | 0.9456 | likely_pathogenic | 0.94 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/Y | 0.9406 | likely_pathogenic | 0.929 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.744 | deleterious | 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.