Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35722 | 107389;107390;107391 | chr2:178528587;178528586;178528585 | chr2:179393314;179393313;179393312 |
| N2AB | 34081 | 102466;102467;102468 | chr2:178528587;178528586;178528585 | chr2:179393314;179393313;179393312 |
| N2A | 33154 | 99685;99686;99687 | chr2:178528587;178528586;178528585 | chr2:179393314;179393313;179393312 |
| N2B | 26657 | 80194;80195;80196 | chr2:178528587;178528586;178528585 | chr2:179393314;179393313;179393312 |
| Novex-1 | 26782 | 80569;80570;80571 | chr2:178528587;178528586;178528585 | chr2:179393314;179393313;179393312 |
| Novex-2 | 26849 | 80770;80771;80772 | chr2:178528587;178528586;178528585 | chr2:179393314;179393313;179393312 |
| 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 | rs755302099  |
-0.591 | 0.497 | N | 0.565 | 0.217 | 0.391156786388 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| T/P | rs755302099 |
-0.591 | 0.497 | N | 0.565 | 0.217 | 0.391156786388 | gnomAD-4.0.0 | 1.59304E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86072E-06 | 0 | 0 |
| T/S | rs755302099 |
None | None | N | 0.239 | 0.084 | 0.228597637076 | 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/S | rs755302099 |
None | None | N | 0.239 | 0.084 | 0.228597637076 | gnomAD-4.0.0 | 6.56978E-06 | None | None | None | None | N | None | 2.4122E-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 | 0.0771 | likely_benign | 0.0781 | benign | -1.07 | Destabilizing | None | N | 0.226 | neutral | D | 0.525536139 | None | None | N |
| T/C | 0.3672 | ambiguous | 0.3919 | ambiguous | -0.593 | Destabilizing | 0.909 | D | 0.615 | neutral | None | None | None | None | N |
| T/D | 0.34 | likely_benign | 0.3477 | ambiguous | -0.065 | Destabilizing | 0.157 | N | 0.497 | neutral | None | None | None | None | N |
| T/E | 0.3182 | likely_benign | 0.309 | benign | -0.006 | Destabilizing | 0.157 | N | 0.483 | neutral | None | None | None | None | N |
| T/F | 0.2168 | likely_benign | 0.2261 | benign | -0.94 | Destabilizing | 0.726 | D | 0.649 | neutral | None | None | None | None | N |
| T/G | 0.203 | likely_benign | 0.2075 | benign | -1.386 | Destabilizing | 0.072 | N | 0.503 | neutral | None | None | None | None | N |
| T/H | 0.2213 | likely_benign | 0.2195 | benign | -1.518 | Destabilizing | 0.909 | D | 0.661 | neutral | None | None | None | None | N |
| T/I | 0.1623 | likely_benign | 0.1768 | benign | -0.295 | Destabilizing | 0.497 | N | 0.57 | neutral | N | 0.51884224 | None | None | N |
| T/K | 0.2586 | likely_benign | 0.2419 | benign | -0.613 | Destabilizing | 0.157 | N | 0.493 | neutral | None | None | None | None | N |
| T/L | 0.1086 | likely_benign | 0.1157 | benign | -0.295 | Destabilizing | 0.157 | N | 0.479 | neutral | None | None | None | None | N |
| T/M | 0.1145 | likely_benign | 0.1214 | benign | -0.053 | Destabilizing | 0.968 | D | 0.615 | neutral | None | None | None | None | N |
| T/N | 0.1083 | likely_benign | 0.1073 | benign | -0.672 | Destabilizing | 0.124 | N | 0.508 | neutral | N | 0.504371433 | None | None | N |
| T/P | 0.2266 | likely_benign | 0.2231 | benign | -0.521 | Destabilizing | 0.497 | N | 0.565 | neutral | N | 0.475398107 | None | None | N |
| T/Q | 0.2314 | likely_benign | 0.2227 | benign | -0.738 | Destabilizing | 0.567 | D | 0.596 | neutral | None | None | None | None | N |
| T/R | 0.1918 | likely_benign | 0.1782 | benign | -0.51 | Destabilizing | 0.567 | D | 0.568 | neutral | None | None | None | None | N |
| T/S | 0.0728 | likely_benign | 0.0732 | benign | -1.078 | Destabilizing | None | N | 0.239 | neutral | N | 0.465314399 | None | None | N |
| T/V | 0.1516 | likely_benign | 0.1618 | benign | -0.521 | Destabilizing | 0.157 | N | 0.477 | neutral | None | None | None | None | N |
| T/W | 0.5588 | ambiguous | 0.5717 | pathogenic | -0.835 | Destabilizing | 0.968 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/Y | 0.235 | likely_benign | 0.2331 | benign | -0.604 | Destabilizing | 0.726 | D | 0.664 | 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.