Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25576 | 76951;76952;76953 | chr2:178569406;178569405;178569404 | chr2:179434133;179434132;179434131 |
| N2AB | 23935 | 72028;72029;72030 | chr2:178569406;178569405;178569404 | chr2:179434133;179434132;179434131 |
| N2A | 23008 | 69247;69248;69249 | chr2:178569406;178569405;178569404 | chr2:179434133;179434132;179434131 |
| N2B | 16511 | 49756;49757;49758 | chr2:178569406;178569405;178569404 | chr2:179434133;179434132;179434131 |
| Novex-1 | 16636 | 50131;50132;50133 | chr2:178569406;178569405;178569404 | chr2:179434133;179434132;179434131 |
| Novex-2 | 16703 | 50332;50333;50334 | chr2:178569406;178569405;178569404 | chr2:179434133;179434132;179434131 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1184700085  |
None | 0.334 | N | 0.501 | 0.218 | 0.230578612272 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1184700085 |
None | 0.334 | N | 0.501 | 0.218 | 0.230578612272 | gnomAD-4.0.0 | 6.57678E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-05 | 0 | 0 |
| S/R | None | None | 0.638 | N | 0.719 | 0.357 | 0.35139820857 | gnomAD-4.0.0 | 1.59225E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85966E-06 | 0 | 0 |
| S/T | None | None | 0.001 | N | 0.223 | 0.138 | 0.18274738541 | gnomAD-4.0.0 | 1.32035E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-05 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0924 | likely_benign | 0.0941 | benign | -0.692 | Destabilizing | 0.121 | N | 0.397 | neutral | None | None | None | None | I |
| S/C | 0.1265 | likely_benign | 0.1394 | benign | -0.452 | Destabilizing | 0.931 | D | 0.7 | prob.neutral | N | 0.514462689 | None | None | I |
| S/D | 0.9085 | likely_pathogenic | 0.9194 | pathogenic | 0.195 | Stabilizing | 0.399 | N | 0.489 | neutral | None | None | None | None | I |
| S/E | 0.9304 | likely_pathogenic | 0.9381 | pathogenic | 0.169 | Stabilizing | 0.399 | N | 0.498 | neutral | None | None | None | None | I |
| S/F | 0.5065 | ambiguous | 0.5708 | pathogenic | -0.983 | Destabilizing | 0.826 | D | 0.778 | deleterious | None | None | None | None | I |
| S/G | 0.1246 | likely_benign | 0.126 | benign | -0.904 | Destabilizing | 0.334 | N | 0.443 | neutral | D | 0.53032867 | None | None | I |
| S/H | 0.7412 | likely_pathogenic | 0.7779 | pathogenic | -1.356 | Destabilizing | 0.982 | D | 0.701 | prob.neutral | None | None | None | None | I |
| S/I | 0.5448 | ambiguous | 0.5423 | ambiguous | -0.245 | Destabilizing | 0.468 | N | 0.754 | deleterious | N | 0.510993196 | None | None | I |
| S/K | 0.9473 | likely_pathogenic | 0.9567 | pathogenic | -0.549 | Destabilizing | 0.399 | N | 0.491 | neutral | None | None | None | None | I |
| S/L | 0.208 | likely_benign | 0.2224 | benign | -0.245 | Destabilizing | 0.25 | N | 0.591 | neutral | None | None | None | None | I |
| S/M | 0.3022 | likely_benign | 0.3244 | benign | 0.023 | Stabilizing | 0.947 | D | 0.703 | prob.neutral | None | None | None | None | I |
| S/N | 0.4434 | ambiguous | 0.4432 | ambiguous | -0.443 | Destabilizing | 0.334 | N | 0.501 | neutral | N | 0.494837497 | None | None | I |
| S/P | 0.9499 | likely_pathogenic | 0.9513 | pathogenic | -0.361 | Destabilizing | 0.826 | D | 0.713 | prob.delet. | None | None | None | None | I |
| S/Q | 0.8505 | likely_pathogenic | 0.8686 | pathogenic | -0.613 | Destabilizing | 0.826 | D | 0.612 | neutral | None | None | None | None | I |
| S/R | 0.9075 | likely_pathogenic | 0.9257 | pathogenic | -0.447 | Destabilizing | 0.638 | D | 0.719 | prob.delet. | N | 0.4885833 | None | None | I |
| S/T | 0.0846 | likely_benign | 0.0863 | benign | -0.547 | Destabilizing | 0.001 | N | 0.223 | neutral | N | 0.494253227 | None | None | I |
| S/V | 0.4639 | ambiguous | 0.4723 | ambiguous | -0.361 | Destabilizing | 0.25 | N | 0.603 | neutral | None | None | None | None | I |
| S/W | 0.7712 | likely_pathogenic | 0.8241 | pathogenic | -0.927 | Destabilizing | 0.982 | D | 0.738 | prob.delet. | None | None | None | None | I |
| S/Y | 0.5139 | ambiguous | 0.5783 | pathogenic | -0.669 | Destabilizing | 0.826 | D | 0.779 | deleterious | 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.