Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27762 | 83509;83510;83511 | chr2:178562848;178562847;178562846 | chr2:179427575;179427574;179427573 |
| N2AB | 26121 | 78586;78587;78588 | chr2:178562848;178562847;178562846 | chr2:179427575;179427574;179427573 |
| N2A | 25194 | 75805;75806;75807 | chr2:178562848;178562847;178562846 | chr2:179427575;179427574;179427573 |
| N2B | 18697 | 56314;56315;56316 | chr2:178562848;178562847;178562846 | chr2:179427575;179427574;179427573 |
| Novex-1 | 18822 | 56689;56690;56691 | chr2:178562848;178562847;178562846 | chr2:179427575;179427574;179427573 |
| Novex-2 | 18889 | 56890;56891;56892 | chr2:178562848;178562847;178562846 | chr2:179427575;179427574;179427573 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | rs562523414  |
-0.297 | 0.822 | N | 0.611 | 0.286 | 0.436348499334 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| R/T | rs562523414 |
-0.297 | 0.822 | N | 0.611 | 0.286 | 0.436348499334 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| R/T | rs562523414 |
-0.297 | 0.822 | N | 0.611 | 0.286 | 0.436348499334 | gnomAD-4.0.0 | 4.0596E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.87917E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9333 | likely_pathogenic | 0.9221 | pathogenic | -0.515 | Destabilizing | 0.754 | D | 0.609 | neutral | None | None | None | None | I |
| R/C | 0.6225 | likely_pathogenic | 0.5749 | pathogenic | -0.564 | Destabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | I |
| R/D | 0.9804 | likely_pathogenic | 0.9761 | pathogenic | 0.127 | Stabilizing | 0.956 | D | 0.634 | neutral | None | None | None | None | I |
| R/E | 0.8962 | likely_pathogenic | 0.8782 | pathogenic | 0.247 | Stabilizing | 0.754 | D | 0.581 | neutral | None | None | None | None | I |
| R/F | 0.9626 | likely_pathogenic | 0.9509 | pathogenic | -0.424 | Destabilizing | 0.993 | D | 0.723 | prob.delet. | None | None | None | None | I |
| R/G | 0.9281 | likely_pathogenic | 0.9147 | pathogenic | -0.803 | Destabilizing | 0.822 | D | 0.607 | neutral | N | 0.502987344 | None | None | I |
| R/H | 0.3444 | ambiguous | 0.287 | benign | -1.132 | Destabilizing | 0.978 | D | 0.581 | neutral | None | None | None | None | I |
| R/I | 0.7784 | likely_pathogenic | 0.7565 | pathogenic | 0.245 | Stabilizing | 0.97 | D | 0.726 | prob.delet. | N | 0.506448946 | None | None | I |
| R/K | 0.1715 | likely_benign | 0.1453 | benign | -0.46 | Destabilizing | 0.006 | N | 0.243 | neutral | N | 0.417192379 | None | None | I |
| R/L | 0.7525 | likely_pathogenic | 0.7271 | pathogenic | 0.245 | Stabilizing | 0.86 | D | 0.607 | neutral | None | None | None | None | I |
| R/M | 0.7991 | likely_pathogenic | 0.764 | pathogenic | -0.211 | Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | I |
| R/N | 0.9542 | likely_pathogenic | 0.9387 | pathogenic | -0.101 | Destabilizing | 0.956 | D | 0.583 | neutral | None | None | None | None | I |
| R/P | 0.9952 | likely_pathogenic | 0.9958 | pathogenic | 0.013 | Stabilizing | 0.978 | D | 0.713 | prob.delet. | None | None | None | None | I |
| R/Q | 0.3311 | likely_benign | 0.2886 | benign | -0.209 | Destabilizing | 0.956 | D | 0.616 | neutral | None | None | None | None | I |
| R/S | 0.9512 | likely_pathogenic | 0.9333 | pathogenic | -0.779 | Destabilizing | 0.822 | D | 0.626 | neutral | N | 0.493461006 | None | None | I |
| R/T | 0.816 | likely_pathogenic | 0.7741 | pathogenic | -0.48 | Destabilizing | 0.822 | D | 0.611 | neutral | N | 0.494498369 | None | None | I |
| R/V | 0.83 | likely_pathogenic | 0.8086 | pathogenic | 0.013 | Stabilizing | 0.956 | D | 0.699 | prob.neutral | None | None | None | None | I |
| R/W | 0.7127 | likely_pathogenic | 0.673 | pathogenic | -0.198 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | I |
| R/Y | 0.8944 | likely_pathogenic | 0.8639 | pathogenic | 0.129 | Stabilizing | 0.993 | D | 0.715 | prob.delet. | 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.