Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2510 | 7753;7754;7755 | chr2:178773528;178773527;178773526 | chr2:179638255;179638254;179638253 |
| N2AB | 2510 | 7753;7754;7755 | chr2:178773528;178773527;178773526 | chr2:179638255;179638254;179638253 |
| N2A | 2510 | 7753;7754;7755 | chr2:178773528;178773527;178773526 | chr2:179638255;179638254;179638253 |
| N2B | 2464 | 7615;7616;7617 | chr2:178773528;178773527;178773526 | chr2:179638255;179638254;179638253 |
| Novex-1 | 2464 | 7615;7616;7617 | chr2:178773528;178773527;178773526 | chr2:179638255;179638254;179638253 |
| Novex-2 | 2464 | 7615;7616;7617 | chr2:178773528;178773527;178773526 | chr2:179638255;179638254;179638253 |
| Novex-3 | 2510 | 7753;7754;7755 | chr2:178773528;178773527;178773526 | chr2:179638255;179638254;179638253 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | None | None | 1.0 | D | 0.686 | 0.5 | 0.207176502487 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0808 | likely_benign | 0.0864 | benign | -0.171 | Destabilizing | 0.997 | D | 0.411 | neutral | N | 0.452440338 | None | None | N |
| S/C | 0.1717 | likely_benign | 0.1935 | benign | -0.253 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| S/D | 0.3565 | ambiguous | 0.3732 | ambiguous | 0.126 | Stabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| S/E | 0.472 | ambiguous | 0.5067 | ambiguous | 0.023 | Stabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| S/F | 0.2655 | likely_benign | 0.2925 | benign | -0.837 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| S/G | 0.0997 | likely_benign | 0.1041 | benign | -0.247 | Destabilizing | 0.999 | D | 0.458 | neutral | None | None | None | None | N |
| S/H | 0.3912 | ambiguous | 0.4311 | ambiguous | -0.584 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| S/I | 0.2361 | likely_benign | 0.2646 | benign | -0.104 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| S/K | 0.5292 | ambiguous | 0.5817 | pathogenic | -0.367 | Destabilizing | 0.999 | D | 0.558 | neutral | None | None | None | None | N |
| S/L | 0.1148 | likely_benign | 0.1244 | benign | -0.104 | Destabilizing | 1.0 | D | 0.612 | neutral | D | 0.566573793 | None | None | N |
| S/M | 0.2517 | likely_benign | 0.2699 | benign | -0.04 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| S/N | 0.1753 | likely_benign | 0.186 | benign | -0.06 | Destabilizing | 0.999 | D | 0.536 | neutral | None | None | None | None | N |
| S/P | 0.4121 | ambiguous | 0.4736 | ambiguous | -0.099 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.566573793 | None | None | N |
| S/Q | 0.5037 | ambiguous | 0.5489 | ambiguous | -0.301 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| S/R | 0.4842 | ambiguous | 0.5417 | ambiguous | -0.095 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| S/T | 0.0921 | likely_benign | 0.0939 | benign | -0.184 | Destabilizing | 0.999 | D | 0.445 | neutral | N | 0.453386813 | None | None | N |
| S/V | 0.2333 | likely_benign | 0.2531 | benign | -0.099 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| S/W | 0.3997 | ambiguous | 0.444 | ambiguous | -0.903 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| S/Y | 0.2591 | likely_benign | 0.2843 | benign | -0.593 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | 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.