Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16680 | 50263;50264;50265 | chr2:178612487;178612486;178612485 | chr2:179477214;179477213;179477212 |
| N2AB | 15039 | 45340;45341;45342 | chr2:178612487;178612486;178612485 | chr2:179477214;179477213;179477212 |
| N2A | 14112 | 42559;42560;42561 | chr2:178612487;178612486;178612485 | chr2:179477214;179477213;179477212 |
| N2B | 7615 | 23068;23069;23070 | chr2:178612487;178612486;178612485 | chr2:179477214;179477213;179477212 |
| Novex-1 | 7740 | 23443;23444;23445 | chr2:178612487;178612486;178612485 | chr2:179477214;179477213;179477212 |
| Novex-2 | 7807 | 23644;23645;23646 | chr2:178612487;178612486;178612485 | chr2:179477214;179477213;179477212 |
| 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/R | rs1206390929  |
-0.186 | 1.0 | D | 0.801 | 0.686 | 0.733247199439 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| G/R | rs1206390929 |
-0.186 | 1.0 | D | 0.801 | 0.686 | 0.733247199439 | gnomAD-4.0.0 | 3.18982E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8673E-05 | 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 | 0.7623 | likely_pathogenic | 0.8626 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.611 | neutral | D | 0.631518278 | None | None | I |
| G/C | 0.8549 | likely_pathogenic | 0.9337 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/D | 0.8424 | likely_pathogenic | 0.9453 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | I |
| G/E | 0.9084 | likely_pathogenic | 0.9718 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.693802726 | None | None | I |
| G/F | 0.9631 | likely_pathogenic | 0.9826 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/H | 0.9379 | likely_pathogenic | 0.9762 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/I | 0.9491 | likely_pathogenic | 0.9817 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/K | 0.9383 | likely_pathogenic | 0.9793 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/L | 0.9458 | likely_pathogenic | 0.9727 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/M | 0.9652 | likely_pathogenic | 0.9845 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.8191 | likely_pathogenic | 0.9046 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/P | 0.9942 | likely_pathogenic | 0.9974 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Q | 0.9065 | likely_pathogenic | 0.96 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.8834 | likely_pathogenic | 0.956 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.665414378 | None | None | I |
| G/S | 0.5665 | likely_pathogenic | 0.7137 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/T | 0.8794 | likely_pathogenic | 0.9416 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/V | 0.9273 | likely_pathogenic | 0.9725 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.762128923 | None | None | I |
| G/W | 0.9593 | likely_pathogenic | 0.9853 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.797478406 | None | None | I |
| G/Y | 0.9412 | likely_pathogenic | 0.9763 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | 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.