Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9636 | 29131;29132;29133 | chr2:178707661;178707660;178707659 | chr2:179572388;179572387;179572386 |
| N2AB | 9319 | 28180;28181;28182 | chr2:178707661;178707660;178707659 | chr2:179572388;179572387;179572386 |
| N2A | 8392 | 25399;25400;25401 | chr2:178707661;178707660;178707659 | chr2:179572388;179572387;179572386 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs2076080616  |
None | 0.988 | None | 0.687 | 0.429 | 0.772638994673 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82702E-05 | 0 | None | 0 | 0 | 0 | 0 | 1.65645E-05 |
| C/Y | rs1434739895 |
-1.558 | 0.134 | None | 0.462 | 0.267 | 0.462111473445 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/Y | rs1434739895 |
-1.558 | 0.134 | None | 0.462 | 0.267 | 0.462111473445 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs1434739895 |
-1.558 | 0.134 | None | 0.462 | 0.267 | 0.462111473445 | gnomAD-4.0.0 | 6.57013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46981E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5179 | ambiguous | 0.4414 | ambiguous | -1.741 | Destabilizing | 0.863 | D | 0.385 | neutral | None | None | None | None | N |
| C/D | 0.9163 | likely_pathogenic | 0.8418 | pathogenic | -0.775 | Destabilizing | 0.969 | D | 0.687 | prob.neutral | None | None | None | None | N |
| C/E | 0.9327 | likely_pathogenic | 0.8742 | pathogenic | -0.619 | Destabilizing | 0.969 | D | 0.685 | prob.neutral | None | None | None | None | N |
| C/F | 0.2754 | likely_benign | 0.2283 | benign | -1.099 | Destabilizing | 0.852 | D | 0.633 | neutral | None | None | None | None | N |
| C/G | 0.3031 | likely_benign | 0.229 | benign | -2.085 | Highly Destabilizing | 0.959 | D | 0.643 | neutral | None | None | None | None | N |
| C/H | 0.683 | likely_pathogenic | 0.5553 | ambiguous | -2.285 | Highly Destabilizing | 0.991 | D | 0.673 | neutral | None | None | None | None | N |
| C/I | 0.5205 | ambiguous | 0.4604 | ambiguous | -0.84 | Destabilizing | 0.939 | D | 0.601 | neutral | None | None | None | None | N |
| C/K | 0.9317 | likely_pathogenic | 0.8566 | pathogenic | -1.077 | Destabilizing | 0.939 | D | 0.661 | neutral | None | None | None | None | N |
| C/L | 0.5323 | ambiguous | 0.464 | ambiguous | -0.84 | Destabilizing | 0.863 | D | 0.545 | neutral | None | None | None | None | N |
| C/M | 0.7201 | likely_pathogenic | 0.6622 | pathogenic | 0.141 | Stabilizing | 0.997 | D | 0.645 | neutral | None | None | None | None | N |
| C/N | 0.7247 | likely_pathogenic | 0.6164 | pathogenic | -1.264 | Destabilizing | 0.991 | D | 0.694 | prob.neutral | None | None | None | None | N |
| C/P | 0.9793 | likely_pathogenic | 0.9587 | pathogenic | -1.115 | Destabilizing | 0.997 | D | 0.687 | prob.neutral | None | None | None | None | N |
| C/Q | 0.8013 | likely_pathogenic | 0.6926 | pathogenic | -1.025 | Destabilizing | 0.997 | D | 0.691 | prob.neutral | None | None | None | None | N |
| C/R | 0.708 | likely_pathogenic | 0.5408 | ambiguous | -1.203 | Destabilizing | 0.988 | D | 0.687 | prob.neutral | None | None | None | None | N |
| C/S | 0.3882 | ambiguous | 0.3127 | benign | -1.727 | Destabilizing | 0.704 | D | 0.564 | neutral | None | None | None | None | N |
| C/T | 0.5285 | ambiguous | 0.4536 | ambiguous | -1.377 | Destabilizing | 0.079 | N | 0.329 | neutral | None | None | None | None | N |
| C/V | 0.4381 | ambiguous | 0.4044 | ambiguous | -1.115 | Destabilizing | 0.863 | D | 0.559 | neutral | None | None | None | None | N |
| C/W | 0.6436 | likely_pathogenic | 0.5228 | ambiguous | -1.246 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | N |
| C/Y | 0.3502 | ambiguous | 0.284 | benign | -1.163 | Destabilizing | 0.134 | N | 0.462 | neutral | 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.