Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16498 | 49717;49718;49719 | chr2:178613791;178613790;178613789 | chr2:179478518;179478517;179478516 |
| N2AB | 14857 | 44794;44795;44796 | chr2:178613791;178613790;178613789 | chr2:179478518;179478517;179478516 |
| N2A | 13930 | 42013;42014;42015 | chr2:178613791;178613790;178613789 | chr2:179478518;179478517;179478516 |
| N2B | 7433 | 22522;22523;22524 | chr2:178613791;178613790;178613789 | chr2:179478518;179478517;179478516 |
| Novex-1 | 7558 | 22897;22898;22899 | chr2:178613791;178613790;178613789 | chr2:179478518;179478517;179478516 |
| Novex-2 | 7625 | 23098;23099;23100 | chr2:178613791;178613790;178613789 | chr2:179478518;179478517;179478516 |
| 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/F | None | None | 0.968 | N | 0.574 | 0.277 | 0.632114719573 | gnomAD-4.0.0 | 6.84703E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0004E-07 | 0 | 0 |
| V/I | rs781046006  |
-0.117 | 0.011 | N | 0.202 | 0.085 | 0.297031009988 | gnomAD-4.0.0 | 1.36941E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0004E-07 | 1.16031E-05 | 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 | 0.354 | ambiguous | 0.3249 | benign | -1.432 | Destabilizing | 0.78 | D | 0.457 | neutral | N | 0.473894694 | None | None | N |
| V/C | 0.7029 | likely_pathogenic | 0.6571 | pathogenic | -0.864 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| V/D | 0.7005 | likely_pathogenic | 0.7074 | pathogenic | -1.322 | Destabilizing | 0.995 | D | 0.675 | neutral | N | 0.48282154 | None | None | N |
| V/E | 0.4536 | ambiguous | 0.4412 | ambiguous | -1.363 | Destabilizing | 0.996 | D | 0.631 | neutral | None | None | None | None | N |
| V/F | 0.2348 | likely_benign | 0.2591 | benign | -1.214 | Destabilizing | 0.968 | D | 0.574 | neutral | N | 0.483291173 | None | None | N |
| V/G | 0.3905 | ambiguous | 0.3639 | ambiguous | -1.705 | Destabilizing | 0.995 | D | 0.673 | neutral | N | 0.519331627 | None | None | N |
| V/H | 0.6301 | likely_pathogenic | 0.606 | pathogenic | -1.179 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/I | 0.0692 | likely_benign | 0.0685 | benign | -0.799 | Destabilizing | 0.011 | N | 0.202 | neutral | N | 0.430792362 | None | None | N |
| V/K | 0.5614 | ambiguous | 0.5744 | pathogenic | -1.211 | Destabilizing | 0.988 | D | 0.635 | neutral | None | None | None | None | N |
| V/L | 0.1887 | likely_benign | 0.17 | benign | -0.799 | Destabilizing | 0.437 | N | 0.325 | neutral | N | 0.47614138 | None | None | N |
| V/M | 0.1452 | likely_benign | 0.1356 | benign | -0.518 | Destabilizing | 0.976 | D | 0.535 | neutral | None | None | None | None | N |
| V/N | 0.3519 | ambiguous | 0.3184 | benign | -0.934 | Destabilizing | 0.996 | D | 0.675 | prob.neutral | None | None | None | None | N |
| V/P | 0.9701 | likely_pathogenic | 0.9745 | pathogenic | -0.975 | Destabilizing | 0.996 | D | 0.622 | neutral | None | None | None | None | N |
| V/Q | 0.3378 | likely_benign | 0.2993 | benign | -1.177 | Destabilizing | 0.996 | D | 0.637 | neutral | None | None | None | None | N |
| V/R | 0.5682 | likely_pathogenic | 0.595 | pathogenic | -0.573 | Destabilizing | 0.996 | D | 0.674 | neutral | None | None | None | None | N |
| V/S | 0.3312 | likely_benign | 0.2993 | benign | -1.398 | Destabilizing | 0.988 | D | 0.585 | neutral | None | None | None | None | N |
| V/T | 0.247 | likely_benign | 0.2151 | benign | -1.341 | Destabilizing | 0.919 | D | 0.461 | neutral | None | None | None | None | N |
| V/W | 0.8567 | likely_pathogenic | 0.8697 | pathogenic | -1.351 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/Y | 0.5929 | likely_pathogenic | 0.5948 | pathogenic | -1.094 | Destabilizing | 0.996 | D | 0.571 | 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.