Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19284 | 58075;58076;58077 | chr2:178594644;178594643;178594642 | chr2:179459371;179459370;179459369 |
| N2AB | 17643 | 53152;53153;53154 | chr2:178594644;178594643;178594642 | chr2:179459371;179459370;179459369 |
| N2A | 16716 | 50371;50372;50373 | chr2:178594644;178594643;178594642 | chr2:179459371;179459370;179459369 |
| N2B | 10219 | 30880;30881;30882 | chr2:178594644;178594643;178594642 | chr2:179459371;179459370;179459369 |
| Novex-1 | 10344 | 31255;31256;31257 | chr2:178594644;178594643;178594642 | chr2:179459371;179459370;179459369 |
| Novex-2 | 10411 | 31456;31457;31458 | chr2:178594644;178594643;178594642 | chr2:179459371;179459370;179459369 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs934353226  |
None | 0.999 | N | 0.778 | 0.495 | 0.881191566104 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs934353226 |
None | 0.999 | N | 0.778 | 0.495 | 0.881191566104 | gnomAD-4.0.0 | 4.38862E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.69262E-04 | 5.12813E-06 | 0 | 0 |
| V/I | rs377270926 |
-0.45 | 0.994 | N | 0.531 | 0.231 | None | gnomAD-2.1.1 | 8.52E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.3E-06 | 1.79211E-04 |
| V/I | rs377270926 |
-0.45 | 0.994 | N | 0.531 | 0.231 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs377270926 |
-0.45 | 0.994 | N | 0.531 | 0.231 | None | gnomAD-4.0.0 | 6.8952E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.54204E-06 | 0 | 1.62375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3146 | likely_benign | 0.2657 | benign | -0.683 | Destabilizing | 0.997 | D | 0.484 | neutral | N | 0.49669802 | None | None | I |
| V/C | 0.8491 | likely_pathogenic | 0.8372 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| V/D | 0.8372 | likely_pathogenic | 0.7886 | pathogenic | -0.013 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | I |
| V/E | 0.5762 | likely_pathogenic | 0.5107 | ambiguous | -0.107 | Destabilizing | 0.999 | D | 0.829 | deleterious | N | 0.470957001 | None | None | I |
| V/F | 0.4849 | ambiguous | 0.4407 | ambiguous | -0.818 | Destabilizing | 0.999 | D | 0.691 | prob.delet. | None | None | None | None | I |
| V/G | 0.6344 | likely_pathogenic | 0.5845 | pathogenic | -0.837 | Destabilizing | 0.999 | D | 0.778 | deleterious | N | 0.491257012 | None | None | I |
| V/H | 0.8794 | likely_pathogenic | 0.8474 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| V/I | 0.0933 | likely_benign | 0.0867 | benign | -0.42 | Destabilizing | 0.994 | D | 0.531 | neutral | N | 0.484808945 | None | None | I |
| V/K | 0.6625 | likely_pathogenic | 0.5931 | pathogenic | -0.34 | Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | I |
| V/L | 0.3939 | ambiguous | 0.3577 | ambiguous | -0.42 | Destabilizing | 0.994 | D | 0.524 | neutral | N | 0.516918577 | None | None | I |
| V/M | 0.2762 | likely_benign | 0.2445 | benign | -0.386 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | I |
| V/N | 0.6599 | likely_pathogenic | 0.5873 | pathogenic | -0.128 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | I |
| V/P | 0.4342 | ambiguous | 0.4327 | ambiguous | -0.472 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | I |
| V/Q | 0.5813 | likely_pathogenic | 0.5182 | ambiguous | -0.377 | Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | I |
| V/R | 0.6714 | likely_pathogenic | 0.6108 | pathogenic | 0.124 | Stabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | I |
| V/S | 0.4832 | ambiguous | 0.4083 | ambiguous | -0.615 | Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | I |
| V/T | 0.3171 | likely_benign | 0.2633 | benign | -0.606 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | I |
| V/W | 0.9716 | likely_pathogenic | 0.9679 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| V/Y | 0.8682 | likely_pathogenic | 0.8455 | pathogenic | -0.535 | Destabilizing | 0.999 | D | 0.733 | 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.