Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2681 | 8266;8267;8268 | chr2:178771286;178771285;178771284 | chr2:179636013;179636012;179636011 |
| N2AB | 2681 | 8266;8267;8268 | chr2:178771286;178771285;178771284 | chr2:179636013;179636012;179636011 |
| N2A | 2681 | 8266;8267;8268 | chr2:178771286;178771285;178771284 | chr2:179636013;179636012;179636011 |
| N2B | 2635 | 8128;8129;8130 | chr2:178771286;178771285;178771284 | chr2:179636013;179636012;179636011 |
| Novex-1 | 2635 | 8128;8129;8130 | chr2:178771286;178771285;178771284 | chr2:179636013;179636012;179636011 |
| Novex-2 | 2635 | 8128;8129;8130 | chr2:178771286;178771285;178771284 | chr2:179636013;179636012;179636011 |
| Novex-3 | 2681 | 8266;8267;8268 | chr2:178771286;178771285;178771284 | chr2:179636013;179636012;179636011 |
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/A | rs1412458944  |
-1.333 | None | N | 0.301 | 0.058 | 0.104622674875 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs1412458944 |
-1.333 | None | N | 0.301 | 0.058 | 0.104622674875 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| T/N | rs1298500274 |
-1.77 | 0.331 | D | 0.643 | 0.295 | 0.355658859761 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/N | rs1298500274 |
-1.77 | 0.331 | D | 0.643 | 0.295 | 0.355658859761 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1298500274 |
-1.77 | 0.331 | D | 0.643 | 0.295 | 0.355658859761 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0701 | likely_benign | 0.0759 | benign | -1.046 | Destabilizing | None | N | 0.301 | neutral | N | 0.464700333 | None | None | N |
| T/C | 0.4083 | ambiguous | 0.4395 | ambiguous | -1.515 | Destabilizing | 0.909 | D | 0.702 | prob.neutral | None | None | None | None | N |
| T/D | 0.9348 | likely_pathogenic | 0.9109 | pathogenic | -2.586 | Highly Destabilizing | 0.396 | N | 0.71 | prob.delet. | None | None | None | None | N |
| T/E | 0.9087 | likely_pathogenic | 0.8755 | pathogenic | -2.445 | Highly Destabilizing | 0.157 | N | 0.694 | prob.neutral | None | None | None | None | N |
| T/F | 0.9183 | likely_pathogenic | 0.9026 | pathogenic | -1.071 | Destabilizing | 0.726 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/G | 0.4069 | ambiguous | 0.4045 | ambiguous | -1.316 | Destabilizing | 0.157 | N | 0.638 | neutral | None | None | None | None | N |
| T/H | 0.9019 | likely_pathogenic | 0.8745 | pathogenic | -1.383 | Destabilizing | 0.909 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/I | 0.5425 | ambiguous | 0.5467 | ambiguous | -0.38 | Destabilizing | 0.497 | N | 0.732 | prob.delet. | N | 0.497470801 | None | None | N |
| T/K | 0.8917 | likely_pathogenic | 0.8473 | pathogenic | -0.835 | Destabilizing | 0.157 | N | 0.698 | prob.neutral | None | None | None | None | N |
| T/L | 0.3534 | ambiguous | 0.3336 | benign | -0.38 | Destabilizing | 0.157 | N | 0.649 | neutral | None | None | None | None | N |
| T/M | 0.2987 | likely_benign | 0.2747 | benign | -0.532 | Destabilizing | 0.909 | D | 0.71 | prob.delet. | None | None | None | None | N |
| T/N | 0.5725 | likely_pathogenic | 0.5252 | ambiguous | -1.551 | Destabilizing | 0.331 | N | 0.643 | neutral | D | 0.648606997 | None | None | N |
| T/P | 0.3875 | ambiguous | 0.3412 | ambiguous | -0.576 | Destabilizing | 0.497 | N | 0.725 | prob.delet. | N | 0.500115887 | None | None | N |
| T/Q | 0.8362 | likely_pathogenic | 0.7974 | pathogenic | -1.581 | Destabilizing | 0.567 | D | 0.746 | deleterious | None | None | None | None | N |
| T/R | 0.8439 | likely_pathogenic | 0.7925 | pathogenic | -0.711 | Destabilizing | 0.567 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/S | 0.1706 | likely_benign | 0.1791 | benign | -1.541 | Destabilizing | 0.001 | N | 0.294 | neutral | N | 0.507914253 | None | None | N |
| T/V | 0.2501 | likely_benign | 0.2563 | benign | -0.576 | Destabilizing | 0.157 | N | 0.613 | neutral | None | None | None | None | N |
| T/W | 0.988 | likely_pathogenic | 0.9836 | pathogenic | -1.277 | Destabilizing | 0.968 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/Y | 0.9433 | likely_pathogenic | 0.926 | pathogenic | -0.84 | Destabilizing | 0.726 | D | 0.747 | deleterious | 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.