Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6806 | 20641;20642;20643 | chr2:178725906;178725905;178725904 | chr2:179590633;179590632;179590631 |
| N2AB | 6489 | 19690;19691;19692 | chr2:178725906;178725905;178725904 | chr2:179590633;179590632;179590631 |
| N2A | 5562 | 16909;16910;16911 | chr2:178725906;178725905;178725904 | chr2:179590633;179590632;179590631 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs768932465  |
-0.628 | 0.957 | N | 0.213 | 0.272 | 0.237489013734 | gnomAD-2.1.1 | 1.00171E-04 | None | None | None | None | N | None | 0 | 2.8393E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.40887E-04 | 0 |
| K/N | rs768932465 |
-0.628 | 0.957 | N | 0.213 | 0.272 | 0.237489013734 | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | N | None | 2.41E-05 | 1.96644E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.32306E-04 | 0 | 0 |
| K/N | rs768932465 |
-0.628 | 0.957 | N | 0.213 | 0.272 | 0.237489013734 | gnomAD-4.0.0 | 9.91814E-05 | None | None | None | None | N | None | 1.33308E-05 | 3.00411E-04 | None | 0 | 0 | None | 0 | 1.6518E-04 | 1.1361E-04 | 1.09851E-05 | 8.00871E-05 |
| K/T | None | None | 0.995 | N | 0.465 | 0.485 | 0.575946966538 | gnomAD-4.0.0 | 1.59285E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41546E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9035 | likely_pathogenic | 0.8728 | pathogenic | -0.682 | Destabilizing | 0.999 | D | 0.368 | neutral | None | None | None | None | N |
| K/C | 0.9661 | likely_pathogenic | 0.9608 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/D | 0.939 | likely_pathogenic | 0.914 | pathogenic | 0.188 | Stabilizing | 0.999 | D | 0.463 | neutral | None | None | None | None | N |
| K/E | 0.8289 | likely_pathogenic | 0.8001 | pathogenic | 0.318 | Stabilizing | 0.995 | D | 0.365 | neutral | N | 0.497960915 | None | None | N |
| K/F | 0.9733 | likely_pathogenic | 0.9662 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| K/G | 0.9297 | likely_pathogenic | 0.9052 | pathogenic | -1.046 | Destabilizing | 0.999 | D | 0.473 | neutral | None | None | None | None | N |
| K/H | 0.7025 | likely_pathogenic | 0.6571 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.503 | neutral | None | None | None | None | N |
| K/I | 0.8112 | likely_pathogenic | 0.7843 | pathogenic | 0.262 | Stabilizing | 0.998 | D | 0.655 | neutral | N | 0.509307674 | None | None | N |
| K/L | 0.8264 | likely_pathogenic | 0.7991 | pathogenic | 0.262 | Stabilizing | 0.995 | D | 0.525 | neutral | None | None | None | None | N |
| K/M | 0.7249 | likely_pathogenic | 0.6934 | pathogenic | 0.079 | Stabilizing | 1.0 | D | 0.496 | neutral | None | None | None | None | N |
| K/N | 0.8154 | likely_pathogenic | 0.7575 | pathogenic | -0.404 | Destabilizing | 0.957 | D | 0.213 | neutral | N | 0.49134155 | None | None | N |
| K/P | 0.9721 | likely_pathogenic | 0.9641 | pathogenic | -0.023 | Destabilizing | 1.0 | D | 0.506 | neutral | None | None | None | None | N |
| K/Q | 0.5423 | ambiguous | 0.5074 | ambiguous | -0.411 | Destabilizing | 0.998 | D | 0.488 | neutral | N | 0.497760332 | None | None | N |
| K/R | 0.128 | likely_benign | 0.124 | benign | -0.449 | Destabilizing | 0.639 | D | 0.237 | neutral | N | 0.45930836 | None | None | N |
| K/S | 0.9222 | likely_pathogenic | 0.891 | pathogenic | -1.136 | Destabilizing | 0.999 | D | 0.365 | neutral | None | None | None | None | N |
| K/T | 0.6898 | likely_pathogenic | 0.6313 | pathogenic | -0.785 | Destabilizing | 0.995 | D | 0.465 | neutral | N | 0.498494347 | None | None | N |
| K/V | 0.8195 | likely_pathogenic | 0.7837 | pathogenic | -0.023 | Destabilizing | 0.996 | D | 0.572 | neutral | None | None | None | None | N |
| K/W | 0.9587 | likely_pathogenic | 0.9549 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| K/Y | 0.8818 | likely_pathogenic | 0.8557 | pathogenic | 0.041 | Stabilizing | 0.999 | D | 0.591 | neutral | 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.