Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3433 | 10522;10523;10524 | chr2:178758990;178758989;178758988 | chr2:179623717;179623716;179623715 |
| N2AB | 3433 | 10522;10523;10524 | chr2:178758990;178758989;178758988 | chr2:179623717;179623716;179623715 |
| N2A | 3433 | 10522;10523;10524 | chr2:178758990;178758989;178758988 | chr2:179623717;179623716;179623715 |
| N2B | 3387 | 10384;10385;10386 | chr2:178758990;178758989;178758988 | chr2:179623717;179623716;179623715 |
| Novex-1 | 3387 | 10384;10385;10386 | chr2:178758990;178758989;178758988 | chr2:179623717;179623716;179623715 |
| Novex-2 | 3387 | 10384;10385;10386 | chr2:178758990;178758989;178758988 | chr2:179623717;179623716;179623715 |
| Novex-3 | 3433 | 10522;10523;10524 | chr2:178758990;178758989;178758988 | chr2:179623717;179623716;179623715 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | 1.0 | D | 0.77 | 0.708 | 0.880682999993 | gnomAD-4.0.0 | 6.84134E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99358E-07 | 0 | 0 |
| L/R | None | None | 1.0 | D | 0.743 | 0.659 | 0.85553197916 | gnomAD-4.0.0 | 6.84134E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99358E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.6581 | likely_pathogenic | 0.7635 | pathogenic | -1.661 | Destabilizing | 0.994 | D | 0.509 | neutral | None | None | None | None | N |
| L/C | 0.8545 | likely_pathogenic | 0.8452 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| L/D | 0.9794 | likely_pathogenic | 0.9902 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| L/E | 0.8812 | likely_pathogenic | 0.9261 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| L/F | 0.3733 | ambiguous | 0.4482 | ambiguous | -1.258 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| L/G | 0.8955 | likely_pathogenic | 0.9389 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| L/H | 0.813 | likely_pathogenic | 0.8489 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| L/I | 0.1333 | likely_benign | 0.1389 | benign | -0.89 | Destabilizing | 0.988 | D | 0.425 | neutral | None | None | None | None | N |
| L/K | 0.744 | likely_pathogenic | 0.8131 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| L/M | 0.211 | likely_benign | 0.2454 | benign | -0.706 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | D | 0.571603168 | None | None | N |
| L/N | 0.9127 | likely_pathogenic | 0.9491 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| L/P | 0.8568 | likely_pathogenic | 0.9112 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.613624529 | None | None | N |
| L/Q | 0.673 | likely_pathogenic | 0.763 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.613624529 | None | None | N |
| L/R | 0.6164 | likely_pathogenic | 0.6895 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.613624529 | None | None | N |
| L/S | 0.8412 | likely_pathogenic | 0.905 | pathogenic | -1.384 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| L/T | 0.6134 | likely_pathogenic | 0.7133 | pathogenic | -1.28 | Destabilizing | 0.998 | D | 0.667 | neutral | None | None | None | None | N |
| L/V | 0.1431 | likely_benign | 0.1426 | benign | -1.116 | Destabilizing | 0.619 | D | 0.359 | neutral | N | 0.359745126 | None | None | N |
| L/W | 0.7308 | likely_pathogenic | 0.7683 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| L/Y | 0.8553 | likely_pathogenic | 0.887 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.749 | 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.