Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 71 | 436;437;438 | chr2:178802222;178802221;178802220 | chr2:179666949;179666948;179666947 |
| N2AB | 71 | 436;437;438 | chr2:178802222;178802221;178802220 | chr2:179666949;179666948;179666947 |
| N2A | 71 | 436;437;438 | chr2:178802222;178802221;178802220 | chr2:179666949;179666948;179666947 |
| N2B | 71 | 436;437;438 | chr2:178802222;178802221;178802220 | chr2:179666949;179666948;179666947 |
| Novex-1 | 71 | 436;437;438 | chr2:178802222;178802221;178802220 | chr2:179666949;179666948;179666947 |
| Novex-2 | 71 | 436;437;438 | chr2:178802222;178802221;178802220 | chr2:179666949;179666948;179666947 |
| Novex-3 | 71 | 436;437;438 | chr2:178802222;178802221;178802220 | chr2:179666949;179666948;179666947 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | None | None | 0.996 | N | 0.721 | 0.304 | 0.432154444652 | gnomAD-4.0.0 | 1.20037E-06 | None | None | None | -0.808(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31256E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1445 | likely_benign | 0.1618 | benign | -0.576 | Destabilizing | 0.841 | D | 0.482 | neutral | N | 0.506423914 | None | -0.297(TCAP) | N |
| T/C | 0.8523 | likely_pathogenic | 0.8998 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | -0.633(TCAP) | N |
| T/D | 0.4452 | ambiguous | 0.5031 | ambiguous | 0.102 | Stabilizing | 0.997 | D | 0.689 | prob.neutral | None | None | None | -0.633(TCAP) | N |
| T/E | 0.3896 | ambiguous | 0.4711 | ambiguous | 0.05 | Stabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | -0.741(TCAP) | N |
| T/F | 0.5655 | likely_pathogenic | 0.6654 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | -0.48(TCAP) | N |
| T/G | 0.2702 | likely_benign | 0.2985 | benign | -0.761 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | -0.273(TCAP) | N |
| T/H | 0.5162 | ambiguous | 0.5984 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | 0.265(TCAP) | N |
| T/I | 0.4873 | ambiguous | 0.5995 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.512203139 | None | -0.421(TCAP) | N |
| T/K | 0.2984 | likely_benign | 0.336 | benign | -0.473 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | -0.857(TCAP) | N |
| T/L | 0.1999 | likely_benign | 0.2431 | benign | -0.195 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | -0.421(TCAP) | N |
| T/M | 0.1742 | likely_benign | 0.2014 | benign | 0.139 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | -0.078(TCAP) | N |
| T/N | 0.1507 | likely_benign | 0.1672 | benign | -0.283 | Destabilizing | 0.996 | D | 0.721 | prob.delet. | N | 0.479327204 | None | -0.808(TCAP) | N |
| T/P | 0.4518 | ambiguous | 0.4967 | ambiguous | -0.292 | Destabilizing | 0.998 | D | 0.793 | deleterious | D | 0.640926427 | None | -0.371(TCAP) | N |
| T/Q | 0.2834 | likely_benign | 0.3221 | benign | -0.527 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | -0.746(TCAP) | N |
| T/R | 0.252 | likely_benign | 0.3061 | benign | -0.2 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | -0.69(TCAP) | N |
| T/S | 0.1225 | likely_benign | 0.1303 | benign | -0.557 | Destabilizing | 0.499 | N | 0.315 | neutral | N | 0.440170388 | None | -0.603(TCAP) | N |
| T/V | 0.3346 | likely_benign | 0.4093 | ambiguous | -0.292 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | -0.371(TCAP) | N |
| T/W | 0.8543 | likely_pathogenic | 0.9036 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | -0.612(TCAP) | N |
| T/Y | 0.6598 | likely_pathogenic | 0.7417 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | -0.344(TCAP) | 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.