Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22271 | 67036;67037;67038 | chr2:178580568;178580567;178580566 | chr2:179445295;179445294;179445293 |
| N2AB | 20630 | 62113;62114;62115 | chr2:178580568;178580567;178580566 | chr2:179445295;179445294;179445293 |
| N2A | 19703 | 59332;59333;59334 | chr2:178580568;178580567;178580566 | chr2:179445295;179445294;179445293 |
| N2B | 13206 | 39841;39842;39843 | chr2:178580568;178580567;178580566 | chr2:179445295;179445294;179445293 |
| Novex-1 | 13331 | 40216;40217;40218 | chr2:178580568;178580567;178580566 | chr2:179445295;179445294;179445293 |
| Novex-2 | 13398 | 40417;40418;40419 | chr2:178580568;178580567;178580566 | chr2:179445295;179445294;179445293 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs2047464424  |
None | 0.056 | N | 0.401 | 0.243 | 0.568285537894 | gnomAD-4.0.0 | 2.73965E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.87568E-05 | 0 | 1.79993E-06 | 0 | 1.6587E-05 |
| L/I | rs2047464424 |
None | 0.805 | N | 0.481 | 0.128 | 0.527908583987 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | rs2047464424 |
None | 0.805 | N | 0.481 | 0.128 | 0.527908583987 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | I | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | None | None | 0.983 | N | 0.648 | 0.716 | 0.812904552971 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| L/V | None | None | 0.025 | N | 0.401 | 0.091 | 0.467074840246 | gnomAD-4.0.0 | 6.84913E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16325E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.7375 | likely_pathogenic | 0.7612 | pathogenic | -2.045 | Highly Destabilizing | 0.845 | D | 0.503 | neutral | None | None | None | None | I |
| L/C | 0.7784 | likely_pathogenic | 0.8009 | pathogenic | -1.385 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | I |
| L/D | 0.9836 | likely_pathogenic | 0.9846 | pathogenic | -1.595 | Destabilizing | 0.996 | D | 0.713 | prob.delet. | None | None | None | None | I |
| L/E | 0.8898 | likely_pathogenic | 0.8936 | pathogenic | -1.522 | Destabilizing | 0.987 | D | 0.713 | prob.delet. | None | None | None | None | I |
| L/F | 0.4565 | ambiguous | 0.4644 | ambiguous | -1.282 | Destabilizing | 0.056 | N | 0.401 | neutral | N | 0.505446561 | None | None | I |
| L/G | 0.9592 | likely_pathogenic | 0.9647 | pathogenic | -2.45 | Highly Destabilizing | 0.987 | D | 0.71 | prob.delet. | None | None | None | None | I |
| L/H | 0.6949 | likely_pathogenic | 0.6985 | pathogenic | -1.616 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.491318778 | None | None | I |
| L/I | 0.1279 | likely_benign | 0.1224 | benign | -0.962 | Destabilizing | 0.805 | D | 0.481 | neutral | N | 0.466757194 | None | None | I |
| L/K | 0.7296 | likely_pathogenic | 0.7524 | pathogenic | -1.64 | Destabilizing | 0.987 | D | 0.652 | neutral | None | None | None | None | I |
| L/M | 0.1749 | likely_benign | 0.1785 | benign | -0.806 | Destabilizing | 0.987 | D | 0.604 | neutral | None | None | None | None | I |
| L/N | 0.8788 | likely_pathogenic | 0.8837 | pathogenic | -1.575 | Destabilizing | 0.996 | D | 0.709 | prob.delet. | None | None | None | None | I |
| L/P | 0.9832 | likely_pathogenic | 0.9852 | pathogenic | -1.294 | Destabilizing | 0.994 | D | 0.708 | prob.delet. | N | 0.517816824 | None | None | I |
| L/Q | 0.5763 | likely_pathogenic | 0.5824 | pathogenic | -1.653 | Destabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | I |
| L/R | 0.6916 | likely_pathogenic | 0.7088 | pathogenic | -1.072 | Destabilizing | 0.983 | D | 0.648 | neutral | N | 0.517309845 | None | None | I |
| L/S | 0.8702 | likely_pathogenic | 0.8911 | pathogenic | -2.242 | Highly Destabilizing | 0.987 | D | 0.638 | neutral | None | None | None | None | I |
| L/T | 0.6806 | likely_pathogenic | 0.7159 | pathogenic | -2.037 | Highly Destabilizing | 0.975 | D | 0.611 | neutral | None | None | None | None | I |
| L/V | 0.1371 | likely_benign | 0.13 | benign | -1.294 | Destabilizing | 0.025 | N | 0.401 | neutral | N | 0.445781702 | None | None | I |
| L/W | 0.7707 | likely_pathogenic | 0.7648 | pathogenic | -1.412 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | I |
| L/Y | 0.7476 | likely_pathogenic | 0.7535 | pathogenic | -1.204 | Destabilizing | 0.95 | D | 0.635 | neutral | 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.