Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23718 | 71377;71378;71379 | chr2:178574980;178574979;178574978 | chr2:179439707;179439706;179439705 |
| N2AB | 22077 | 66454;66455;66456 | chr2:178574980;178574979;178574978 | chr2:179439707;179439706;179439705 |
| N2A | 21150 | 63673;63674;63675 | chr2:178574980;178574979;178574978 | chr2:179439707;179439706;179439705 |
| N2B | 14653 | 44182;44183;44184 | chr2:178574980;178574979;178574978 | chr2:179439707;179439706;179439705 |
| Novex-1 | 14778 | 44557;44558;44559 | chr2:178574980;178574979;178574978 | chr2:179439707;179439706;179439705 |
| Novex-2 | 14845 | 44758;44759;44760 | chr2:178574980;178574979;178574978 | chr2:179439707;179439706;179439705 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | None | None | 0.096 | N | 0.708 | 0.289 | 0.593429312994 | gnomAD-4.0.0 | 6.84508E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15964E-05 | 0 |
| V/I | rs794729489  |
None | None | N | 0.149 | 0.035 | 0.382592752248 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| V/I | rs794729489 |
None | None | N | 0.149 | 0.035 | 0.382592752248 | gnomAD-4.0.0 | 1.23981E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.0982E-05 | 1.602E-05 |
| V/L | None | None | None | N | 0.149 | 0.056 | 0.47290127212 | gnomAD-4.0.0 | 6.84421E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99609E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.124 | likely_benign | 0.1294 | benign | -1.032 | Destabilizing | 0.042 | N | 0.433 | neutral | N | 0.454230614 | None | None | I |
| V/C | 0.5062 | ambiguous | 0.5326 | ambiguous | -0.869 | Destabilizing | 0.958 | D | 0.614 | neutral | None | None | None | None | I |
| V/D | 0.2247 | likely_benign | 0.2044 | benign | -0.797 | Destabilizing | 0.096 | N | 0.708 | prob.delet. | N | 0.433220624 | None | None | I |
| V/E | 0.1829 | likely_benign | 0.1743 | benign | -0.819 | Destabilizing | 0.22 | N | 0.707 | prob.neutral | None | None | None | None | I |
| V/F | 0.1469 | likely_benign | 0.1359 | benign | -0.766 | Destabilizing | 0.427 | N | 0.679 | prob.neutral | N | 0.455790839 | None | None | I |
| V/G | 0.1735 | likely_benign | 0.1762 | benign | -1.306 | Destabilizing | 0.175 | N | 0.653 | neutral | N | 0.521898401 | None | None | I |
| V/H | 0.3625 | ambiguous | 0.3605 | ambiguous | -0.785 | Destabilizing | 0.883 | D | 0.65 | neutral | None | None | None | None | I |
| V/I | 0.0703 | likely_benign | 0.0692 | benign | -0.402 | Destabilizing | None | N | 0.149 | neutral | N | 0.462812812 | None | None | I |
| V/K | 0.2205 | likely_benign | 0.2141 | benign | -1.043 | Destabilizing | 0.22 | N | 0.697 | prob.neutral | None | None | None | None | I |
| V/L | 0.1435 | likely_benign | 0.1445 | benign | -0.402 | Destabilizing | None | N | 0.149 | neutral | N | 0.466218477 | None | None | I |
| V/M | 0.0953 | likely_benign | 0.0951 | benign | -0.433 | Destabilizing | 0.025 | N | 0.315 | neutral | None | None | None | None | I |
| V/N | 0.1321 | likely_benign | 0.1312 | benign | -0.855 | Destabilizing | 0.009 | N | 0.51 | neutral | None | None | None | None | I |
| V/P | 0.6876 | likely_pathogenic | 0.6511 | pathogenic | -0.576 | Destabilizing | 0.667 | D | 0.682 | prob.neutral | None | None | None | None | I |
| V/Q | 0.2057 | likely_benign | 0.2088 | benign | -1.001 | Destabilizing | 0.667 | D | 0.672 | neutral | None | None | None | None | I |
| V/R | 0.2153 | likely_benign | 0.2102 | benign | -0.528 | Destabilizing | 0.497 | N | 0.702 | prob.neutral | None | None | None | None | I |
| V/S | 0.1246 | likely_benign | 0.1302 | benign | -1.325 | Destabilizing | 0.124 | N | 0.623 | neutral | None | None | None | None | I |
| V/T | 0.097 | likely_benign | 0.1032 | benign | -1.233 | Destabilizing | None | N | 0.149 | neutral | None | None | None | None | I |
| V/W | 0.7273 | likely_pathogenic | 0.7024 | pathogenic | -0.934 | Destabilizing | 0.958 | D | 0.673 | neutral | None | None | None | None | I |
| V/Y | 0.3611 | ambiguous | 0.3531 | ambiguous | -0.644 | Destabilizing | 0.667 | D | 0.655 | neutral | None | None | None | None | I |
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.