Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18626 | 56101;56102;56103 | chr2:178601028;178601027;178601026 | chr2:179465755;179465754;179465753 |
| N2AB | 16985 | 51178;51179;51180 | chr2:178601028;178601027;178601026 | chr2:179465755;179465754;179465753 |
| N2A | 16058 | 48397;48398;48399 | chr2:178601028;178601027;178601026 | chr2:179465755;179465754;179465753 |
| N2B | 9561 | 28906;28907;28908 | chr2:178601028;178601027;178601026 | chr2:179465755;179465754;179465753 |
| Novex-1 | 9686 | 29281;29282;29283 | chr2:178601028;178601027;178601026 | chr2:179465755;179465754;179465753 |
| Novex-2 | 9753 | 29482;29483;29484 | chr2:178601028;178601027;178601026 | chr2:179465755;179465754;179465753 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/P | rs762549682  |
-0.409 | None | N | 0.285 | 0.118 | 0.209622950755 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/P | rs762549682 |
-0.409 | None | N | 0.285 | 0.118 | 0.209622950755 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/P | rs762549682 |
-0.409 | None | N | 0.285 | 0.118 | 0.209622950755 | gnomAD-4.0.0 | 2.56465E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79092E-06 | 0 | 0 |
| T/S | None | None | 0.012 | N | 0.349 | 0.064 | 0.104622674875 | gnomAD-4.0.0 | 1.59276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86123E-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 | 0.0705 | likely_benign | 0.0665 | benign | -0.214 | Destabilizing | 0.005 | N | 0.309 | neutral | N | 0.41592765 | None | None | N |
| T/C | 0.338 | likely_benign | 0.3002 | benign | -0.22 | Destabilizing | 0.864 | D | 0.473 | neutral | None | None | None | None | N |
| T/D | 0.1929 | likely_benign | 0.1591 | benign | 0.201 | Stabilizing | 0.016 | N | 0.447 | neutral | None | None | None | None | N |
| T/E | 0.1038 | likely_benign | 0.0964 | benign | 0.111 | Stabilizing | None | N | 0.265 | neutral | None | None | None | None | N |
| T/F | 0.2049 | likely_benign | 0.1771 | benign | -0.857 | Destabilizing | 0.628 | D | 0.525 | neutral | None | None | None | None | N |
| T/G | 0.1457 | likely_benign | 0.1259 | benign | -0.291 | Destabilizing | 0.031 | N | 0.455 | neutral | None | None | None | None | N |
| T/H | 0.148 | likely_benign | 0.1372 | benign | -0.546 | Destabilizing | 0.356 | N | 0.513 | neutral | None | None | None | None | N |
| T/I | 0.1041 | likely_benign | 0.1005 | benign | -0.133 | Destabilizing | 0.106 | N | 0.489 | neutral | N | 0.48669167 | None | None | N |
| T/K | 0.0638 | likely_benign | 0.0679 | benign | -0.208 | Destabilizing | None | N | 0.258 | neutral | N | 0.380294924 | None | None | N |
| T/L | 0.0808 | likely_benign | 0.075 | benign | -0.133 | Destabilizing | 0.031 | N | 0.455 | neutral | None | None | None | None | N |
| T/M | 0.0822 | likely_benign | 0.0796 | benign | -0.037 | Destabilizing | 0.628 | D | 0.494 | neutral | None | None | None | None | N |
| T/N | 0.0773 | likely_benign | 0.0706 | benign | 0.004 | Stabilizing | 0.072 | N | 0.379 | neutral | None | None | None | None | N |
| T/P | 0.1361 | likely_benign | 0.1073 | benign | -0.135 | Destabilizing | None | N | 0.285 | neutral | N | 0.417447803 | None | None | N |
| T/Q | 0.084 | likely_benign | 0.0827 | benign | -0.203 | Destabilizing | 0.038 | N | 0.451 | neutral | None | None | None | None | N |
| T/R | 0.0719 | likely_benign | 0.0766 | benign | 0.035 | Stabilizing | 0.012 | N | 0.457 | neutral | N | 0.473647802 | None | None | N |
| T/S | 0.0881 | likely_benign | 0.0824 | benign | -0.181 | Destabilizing | 0.012 | N | 0.349 | neutral | N | 0.417639804 | None | None | N |
| T/V | 0.0962 | likely_benign | 0.0912 | benign | -0.135 | Destabilizing | 0.031 | N | 0.371 | neutral | None | None | None | None | N |
| T/W | 0.4184 | ambiguous | 0.3702 | ambiguous | -0.922 | Destabilizing | 0.864 | D | 0.512 | neutral | None | None | None | None | N |
| T/Y | 0.2128 | likely_benign | 0.1828 | benign | -0.602 | Destabilizing | 0.628 | D | 0.517 | 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.