Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17346 | 52261;52262;52263 | chr2:178609274;178609273;178609272 | chr2:179474001;179474000;179473999 |
| N2AB | 15705 | 47338;47339;47340 | chr2:178609274;178609273;178609272 | chr2:179474001;179474000;179473999 |
| N2A | 14778 | 44557;44558;44559 | chr2:178609274;178609273;178609272 | chr2:179474001;179474000;179473999 |
| N2B | 8281 | 25066;25067;25068 | chr2:178609274;178609273;178609272 | chr2:179474001;179474000;179473999 |
| Novex-1 | 8406 | 25441;25442;25443 | chr2:178609274;178609273;178609272 | chr2:179474001;179474000;179473999 |
| Novex-2 | 8473 | 25642;25643;25644 | chr2:178609274;178609273;178609272 | chr2:179474001;179474000;179473999 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/M | None | None | 0.002 | N | 0.266 | 0.028 | 0.353125101423 | gnomAD-4.0.0 | 1.67988E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.6039E-05 | 0 |
| L/P | rs755155531  |
-1.225 | 0.295 | D | 0.547 | 0.225 | 0.627816896369 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 8.44E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs755155531 |
-1.225 | 0.295 | D | 0.547 | 0.225 | 0.627816896369 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/P | rs755155531 |
-1.225 | 0.295 | D | 0.547 | 0.225 | 0.627816896369 | gnomAD-4.0.0 | 6.72363E-06 | None | None | None | None | N | None | 6.9173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.49159E-06 | 0 | 0 |
| L/V | None | None | None | N | 0.251 | 0.041 | 0.418467456957 | gnomAD-4.0.0 | 1.67988E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.98691E-06 | 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 | 0.1527 | likely_benign | 0.1376 | benign | -2.175 | Highly Destabilizing | 0.007 | N | 0.325 | neutral | None | None | None | None | N |
| L/C | 0.2909 | likely_benign | 0.2513 | benign | -1.262 | Destabilizing | 0.628 | D | 0.479 | neutral | None | None | None | None | N |
| L/D | 0.3788 | ambiguous | 0.3365 | benign | -1.92 | Destabilizing | 0.038 | N | 0.455 | neutral | None | None | None | None | N |
| L/E | 0.1992 | likely_benign | 0.1847 | benign | -1.863 | Destabilizing | 0.038 | N | 0.454 | neutral | None | None | None | None | N |
| L/F | 0.1136 | likely_benign | 0.1017 | benign | -1.541 | Destabilizing | 0.214 | N | 0.499 | neutral | None | None | None | None | N |
| L/G | 0.3563 | ambiguous | 0.32 | benign | -2.572 | Highly Destabilizing | 0.072 | N | 0.453 | neutral | None | None | None | None | N |
| L/H | 0.117 | likely_benign | 0.105 | benign | -1.86 | Destabilizing | 0.214 | N | 0.473 | neutral | None | None | None | None | N |
| L/I | 0.0682 | likely_benign | 0.0649 | benign | -1.106 | Destabilizing | None | N | 0.211 | neutral | None | None | None | None | N |
| L/K | 0.1149 | likely_benign | 0.113 | benign | -1.468 | Destabilizing | 0.038 | N | 0.461 | neutral | None | None | None | None | N |
| L/M | 0.0917 | likely_benign | 0.0875 | benign | -0.751 | Destabilizing | 0.002 | N | 0.266 | neutral | N | 0.467103911 | None | None | N |
| L/N | 0.1501 | likely_benign | 0.1378 | benign | -1.35 | Destabilizing | 0.001 | N | 0.426 | neutral | None | None | None | None | N |
| L/P | 0.2338 | likely_benign | 0.2292 | benign | -1.435 | Destabilizing | 0.295 | N | 0.547 | neutral | D | 0.532960757 | None | None | N |
| L/Q | 0.0849 | likely_benign | 0.0846 | benign | -1.485 | Destabilizing | None | N | 0.377 | neutral | N | 0.484129447 | None | None | N |
| L/R | 0.099 | likely_benign | 0.0933 | benign | -0.908 | Destabilizing | 0.029 | N | 0.505 | neutral | N | 0.452153101 | None | None | N |
| L/S | 0.1463 | likely_benign | 0.1298 | benign | -2.011 | Highly Destabilizing | 0.016 | N | 0.409 | neutral | None | None | None | None | N |
| L/T | 0.1054 | likely_benign | 0.0977 | benign | -1.834 | Destabilizing | None | N | 0.295 | neutral | None | None | None | None | N |
| L/V | 0.069 | likely_benign | 0.0629 | benign | -1.435 | Destabilizing | None | N | 0.251 | neutral | N | 0.421350192 | None | None | N |
| L/W | 0.2313 | likely_benign | 0.2004 | benign | -1.723 | Destabilizing | 0.864 | D | 0.485 | neutral | None | None | None | None | N |
| L/Y | 0.2219 | likely_benign | 0.1941 | benign | -1.5 | Destabilizing | 0.356 | N | 0.565 | 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.