Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2090 | 6493;6494;6495 | chr2:178775596;178775595;178775594 | chr2:179640323;179640322;179640321 |
| N2AB | 2090 | 6493;6494;6495 | chr2:178775596;178775595;178775594 | chr2:179640323;179640322;179640321 |
| N2A | 2090 | 6493;6494;6495 | chr2:178775596;178775595;178775594 | chr2:179640323;179640322;179640321 |
| N2B | 2044 | 6355;6356;6357 | chr2:178775596;178775595;178775594 | chr2:179640323;179640322;179640321 |
| Novex-1 | 2044 | 6355;6356;6357 | chr2:178775596;178775595;178775594 | chr2:179640323;179640322;179640321 |
| Novex-2 | 2044 | 6355;6356;6357 | chr2:178775596;178775595;178775594 | chr2:179640323;179640322;179640321 |
| Novex-3 | 2090 | 6493;6494;6495 | chr2:178775596;178775595;178775594 | chr2:179640323;179640322;179640321 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs752147588  |
-0.885 | 0.997 | N | 0.511 | 0.358 | 0.672852936461 | gnomAD-2.1.1 | 7.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.87966E-04 | None | 0 | 0 | 0 |
| G/C | rs752147588 |
-0.885 | 0.997 | N | 0.511 | 0.358 | 0.672852936461 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| G/C | rs752147588 |
-0.885 | 0.997 | N | 0.511 | 0.358 | 0.672852936461 | gnomAD-4.0.0 | 4.02738E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.91624E-04 | 3.20082E-05 |
| G/D | rs1199041868 |
-0.572 | 0.891 | N | 0.391 | 0.349 | 0.265929055128 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| G/S | rs752147588 |
-0.487 | 0.454 | N | 0.331 | 0.214 | 0.163833314356 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 0 | 0 |
| G/S | rs752147588 |
-0.487 | 0.454 | N | 0.331 | 0.214 | 0.163833314356 | gnomAD-4.0.0 | 2.73636E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.61651E-05 | 0 | 8.993E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0836 | likely_benign | 0.087 | benign | -0.449 | Destabilizing | 0.002 | N | 0.183 | neutral | N | 0.425178181 | None | None | N |
| G/C | 0.2506 | likely_benign | 0.2694 | benign | -0.946 | Destabilizing | 0.997 | D | 0.511 | neutral | N | 0.505562642 | None | None | N |
| G/D | 0.2594 | likely_benign | 0.2488 | benign | -0.51 | Destabilizing | 0.891 | D | 0.391 | neutral | N | 0.443798992 | None | None | N |
| G/E | 0.2296 | likely_benign | 0.2099 | benign | -0.656 | Destabilizing | 0.842 | D | 0.472 | neutral | None | None | None | None | N |
| G/F | 0.5016 | ambiguous | 0.487 | ambiguous | -1.076 | Destabilizing | 0.974 | D | 0.525 | neutral | None | None | None | None | N |
| G/H | 0.4178 | ambiguous | 0.404 | ambiguous | -0.746 | Destabilizing | 0.998 | D | 0.491 | neutral | None | None | None | None | N |
| G/I | 0.1965 | likely_benign | 0.187 | benign | -0.485 | Destabilizing | 0.949 | D | 0.501 | neutral | None | None | None | None | N |
| G/K | 0.5135 | ambiguous | 0.477 | ambiguous | -0.852 | Destabilizing | 0.842 | D | 0.473 | neutral | None | None | None | None | N |
| G/L | 0.2587 | likely_benign | 0.256 | benign | -0.485 | Destabilizing | 0.842 | D | 0.481 | neutral | None | None | None | None | N |
| G/M | 0.3537 | ambiguous | 0.3498 | ambiguous | -0.477 | Destabilizing | 0.998 | D | 0.513 | neutral | None | None | None | None | N |
| G/N | 0.2613 | likely_benign | 0.2538 | benign | -0.526 | Destabilizing | 0.974 | D | 0.35 | neutral | None | None | None | None | N |
| G/P | 0.5607 | ambiguous | 0.5533 | ambiguous | -0.438 | Destabilizing | 0.016 | N | 0.317 | neutral | None | None | None | None | N |
| G/Q | 0.3258 | likely_benign | 0.3061 | benign | -0.807 | Destabilizing | 0.974 | D | 0.488 | neutral | None | None | None | None | N |
| G/R | 0.3558 | ambiguous | 0.3316 | benign | -0.463 | Destabilizing | 0.966 | D | 0.481 | neutral | N | 0.447069676 | None | None | N |
| G/S | 0.0743 | likely_benign | 0.0758 | benign | -0.732 | Destabilizing | 0.454 | N | 0.331 | neutral | N | 0.450162854 | None | None | N |
| G/T | 0.1189 | likely_benign | 0.116 | benign | -0.804 | Destabilizing | 0.067 | N | 0.317 | neutral | None | None | None | None | N |
| G/V | 0.1301 | likely_benign | 0.1243 | benign | -0.438 | Destabilizing | 0.669 | D | 0.478 | neutral | N | 0.424216704 | None | None | N |
| G/W | 0.4672 | ambiguous | 0.4594 | ambiguous | -1.231 | Destabilizing | 0.998 | D | 0.537 | neutral | None | None | None | None | N |
| G/Y | 0.4259 | ambiguous | 0.4178 | ambiguous | -0.873 | Destabilizing | 0.991 | D | 0.523 | 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.