Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3029 | 9310;9311;9312 | chr2:178768751;178768750;178768749 | chr2:179633478;179633477;179633476 |
| N2AB | 3029 | 9310;9311;9312 | chr2:178768751;178768750;178768749 | chr2:179633478;179633477;179633476 |
| N2A | 3029 | 9310;9311;9312 | chr2:178768751;178768750;178768749 | chr2:179633478;179633477;179633476 |
| N2B | 2983 | 9172;9173;9174 | chr2:178768751;178768750;178768749 | chr2:179633478;179633477;179633476 |
| Novex-1 | 2983 | 9172;9173;9174 | chr2:178768751;178768750;178768749 | chr2:179633478;179633477;179633476 |
| Novex-2 | 2983 | 9172;9173;9174 | chr2:178768751;178768750;178768749 | chr2:179633478;179633477;179633476 |
| Novex-3 | 3029 | 9310;9311;9312 | chr2:178768751;178768750;178768749 | chr2:179633478;179633477;179633476 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/T | rs528892388  |
-0.376 | 0.999 | N | 0.673 | 0.488 | 0.283371740733 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| N/T | rs528892388 |
-0.376 | 0.999 | N | 0.673 | 0.488 | 0.283371740733 | gnomAD-4.0.0 | 2.73634E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69788E-06 | 0 | 1.65585E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.757 | likely_pathogenic | 0.7564 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| N/C | 0.7891 | likely_pathogenic | 0.8133 | pathogenic | 0.348 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/D | 0.3804 | ambiguous | 0.3816 | ambiguous | -0.35 | Destabilizing | 0.999 | D | 0.593 | neutral | N | 0.447585254 | None | None | N |
| N/E | 0.8853 | likely_pathogenic | 0.8741 | pathogenic | -0.303 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| N/F | 0.9353 | likely_pathogenic | 0.9373 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/G | 0.5803 | likely_pathogenic | 0.5818 | pathogenic | -0.833 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| N/H | 0.3091 | likely_benign | 0.3302 | benign | -0.821 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.489425392 | None | None | N |
| N/I | 0.9298 | likely_pathogenic | 0.9134 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.771 | deleterious | N | 0.516025148 | None | None | N |
| N/K | 0.8531 | likely_pathogenic | 0.8529 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.457075782 | None | None | N |
| N/L | 0.8323 | likely_pathogenic | 0.81 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/M | 0.8534 | likely_pathogenic | 0.8455 | pathogenic | 0.689 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| N/P | 0.9847 | likely_pathogenic | 0.9818 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| N/Q | 0.8015 | likely_pathogenic | 0.8074 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/R | 0.8543 | likely_pathogenic | 0.8614 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/S | 0.2436 | likely_benign | 0.2227 | benign | -0.614 | Destabilizing | 0.999 | D | 0.566 | neutral | N | 0.457529589 | None | None | N |
| N/T | 0.6731 | likely_pathogenic | 0.6409 | pathogenic | -0.401 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.454324926 | None | None | N |
| N/V | 0.9127 | likely_pathogenic | 0.8965 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| N/W | 0.9755 | likely_pathogenic | 0.9787 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/Y | 0.5302 | ambiguous | 0.5518 | ambiguous | -0.092 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.515260252 | 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.