Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19906 | 59941;59942;59943 | chr2:178592188;178592187;178592186 | chr2:179456915;179456914;179456913 |
| N2AB | 18265 | 55018;55019;55020 | chr2:178592188;178592187;178592186 | chr2:179456915;179456914;179456913 |
| N2A | 17338 | 52237;52238;52239 | chr2:178592188;178592187;178592186 | chr2:179456915;179456914;179456913 |
| N2B | 10841 | 32746;32747;32748 | chr2:178592188;178592187;178592186 | chr2:179456915;179456914;179456913 |
| Novex-1 | 10966 | 33121;33122;33123 | chr2:178592188;178592187;178592186 | chr2:179456915;179456914;179456913 |
| Novex-2 | 11033 | 33322;33323;33324 | chr2:178592188;178592187;178592186 | chr2:179456915;179456914;179456913 |
| 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/D | None | None | 1.0 | N | 0.694 | 0.52 | 0.425148423609 | gnomAD-4.0.0 | 1.59453E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86216E-06 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.703 | 0.491 | 0.326345978581 | gnomAD-4.0.0 | 1.16417E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52973E-05 | 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 | 0.7646 | likely_pathogenic | 0.7378 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.493479646 | None | None | I |
| G/C | 0.8218 | likely_pathogenic | 0.793 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.527032038 | None | None | I |
| G/D | 0.9148 | likely_pathogenic | 0.9173 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.512028428 | None | None | I |
| G/E | 0.9459 | likely_pathogenic | 0.9456 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/F | 0.9738 | likely_pathogenic | 0.9691 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/H | 0.9437 | likely_pathogenic | 0.9456 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/I | 0.975 | likely_pathogenic | 0.97 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9487 | likely_pathogenic | 0.9542 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/L | 0.9591 | likely_pathogenic | 0.9517 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/M | 0.9671 | likely_pathogenic | 0.9615 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/N | 0.8625 | likely_pathogenic | 0.862 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/P | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Q | 0.9166 | likely_pathogenic | 0.9182 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/R | 0.8899 | likely_pathogenic | 0.8991 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.502077701 | None | None | I |
| G/S | 0.5741 | likely_pathogenic | 0.5501 | ambiguous | -0.317 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.49583305 | None | None | I |
| G/T | 0.9207 | likely_pathogenic | 0.9134 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/V | 0.9611 | likely_pathogenic | 0.9548 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.543957751 | None | None | I |
| G/W | 0.9683 | likely_pathogenic | 0.9628 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/Y | 0.9566 | likely_pathogenic | 0.951 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.769 | 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.