Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24964 | 75115;75116;75117 | chr2:178571242;178571241;178571240 | chr2:179435969;179435968;179435967 |
| N2AB | 23323 | 70192;70193;70194 | chr2:178571242;178571241;178571240 | chr2:179435969;179435968;179435967 |
| N2A | 22396 | 67411;67412;67413 | chr2:178571242;178571241;178571240 | chr2:179435969;179435968;179435967 |
| N2B | 15899 | 47920;47921;47922 | chr2:178571242;178571241;178571240 | chr2:179435969;179435968;179435967 |
| Novex-1 | 16024 | 48295;48296;48297 | chr2:178571242;178571241;178571240 | chr2:179435969;179435968;179435967 |
| Novex-2 | 16091 | 48496;48497;48498 | chr2:178571242;178571241;178571240 | chr2:179435969;179435968;179435967 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs72646899  |
-0.212 | 0.698 | N | 0.521 | 0.252 | None | gnomAD-2.1.1 | 3.18071E-04 | None | None | None | None | N | None | 3.39039E-03 | 1.6975E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40449E-04 |
| P/L | rs72646899 |
-0.212 | 0.698 | N | 0.521 | 0.252 | None | gnomAD-3.1.2 | 8.81254E-04 | None | None | None | None | N | None | 3.13873E-03 | 1.96825E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| P/L | rs72646899 |
-0.212 | 0.698 | N | 0.521 | 0.252 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/L | rs72646899 |
-0.212 | 0.698 | N | 0.521 | 0.252 | None | gnomAD-4.0.0 | 1.80976E-04 | None | None | None | None | N | None | 3.52084E-03 | 2.16768E-04 | None | 0 | 0 | None | 0 | 1.65125E-04 | 8.47723E-07 | 0 | 2.08107E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.065 | likely_benign | 0.0678 | benign | -0.608 | Destabilizing | 0.006 | N | 0.247 | neutral | N | 0.44238632 | None | None | N |
| P/C | 0.2961 | likely_benign | 0.3001 | benign | -0.801 | Destabilizing | 0.994 | D | 0.663 | neutral | None | None | None | None | N |
| P/D | 0.3649 | ambiguous | 0.3833 | ambiguous | -0.221 | Destabilizing | 0.956 | D | 0.513 | neutral | None | None | None | None | N |
| P/E | 0.2319 | likely_benign | 0.2485 | benign | -0.298 | Destabilizing | 0.754 | D | 0.477 | neutral | None | None | None | None | N |
| P/F | 0.2746 | likely_benign | 0.2875 | benign | -0.599 | Destabilizing | 0.994 | D | 0.645 | neutral | None | None | None | None | N |
| P/G | 0.1913 | likely_benign | 0.2011 | benign | -0.778 | Destabilizing | 0.754 | D | 0.452 | neutral | None | None | None | None | N |
| P/H | 0.1409 | likely_benign | 0.1408 | benign | -0.177 | Destabilizing | 0.992 | D | 0.617 | neutral | N | 0.471727792 | None | None | N |
| P/I | 0.1591 | likely_benign | 0.1664 | benign | -0.294 | Destabilizing | 0.956 | D | 0.641 | neutral | None | None | None | None | N |
| P/K | 0.217 | likely_benign | 0.2211 | benign | -0.576 | Destabilizing | 0.754 | D | 0.473 | neutral | None | None | None | None | N |
| P/L | 0.0767 | likely_benign | 0.0759 | benign | -0.294 | Destabilizing | 0.698 | D | 0.521 | neutral | N | 0.482387503 | None | None | N |
| P/M | 0.1619 | likely_benign | 0.1717 | benign | -0.475 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| P/N | 0.1926 | likely_benign | 0.1998 | benign | -0.444 | Destabilizing | 0.978 | D | 0.609 | neutral | None | None | None | None | N |
| P/Q | 0.1067 | likely_benign | 0.1098 | benign | -0.627 | Destabilizing | 0.356 | N | 0.336 | neutral | None | None | None | None | N |
| P/R | 0.1543 | likely_benign | 0.1549 | benign | -0.064 | Destabilizing | 0.942 | D | 0.605 | neutral | N | 0.460145361 | None | None | N |
| P/S | 0.0892 | likely_benign | 0.0914 | benign | -0.862 | Destabilizing | 0.698 | D | 0.419 | neutral | N | 0.408233674 | None | None | N |
| P/T | 0.0741 | likely_benign | 0.077 | benign | -0.831 | Destabilizing | 0.822 | D | 0.473 | neutral | N | 0.411868625 | None | None | N |
| P/V | 0.1148 | likely_benign | 0.121 | benign | -0.364 | Destabilizing | 0.754 | D | 0.477 | neutral | None | None | None | None | N |
| P/W | 0.4077 | ambiguous | 0.4298 | ambiguous | -0.685 | Destabilizing | 0.998 | D | 0.672 | neutral | None | None | None | None | N |
| P/Y | 0.2664 | likely_benign | 0.2737 | benign | -0.401 | Destabilizing | 0.993 | D | 0.649 | 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.