Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6124 | 18595;18596;18597 | chr2:178729883;178729882;178729881 | chr2:179594610;179594609;179594608 |
| N2AB | 5807 | 17644;17645;17646 | chr2:178729883;178729882;178729881 | chr2:179594610;179594609;179594608 |
| N2A | 4880 | 14863;14864;14865 | chr2:178729883;178729882;178729881 | chr2:179594610;179594609;179594608 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.001 | D | 0.274 | 0.204 | 0.253205268125 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| T/I | rs1280788914  |
0.02 | 0.101 | N | 0.5 | 0.299 | 0.394230963961 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/I | rs1280788914 |
0.02 | 0.101 | N | 0.5 | 0.299 | 0.394230963961 | gnomAD-4.0.0 | 1.3687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79909E-06 | 0 | 0 |
| T/K | rs1280788914 |
-0.318 | 0.351 | N | 0.479 | 0.348 | 0.429435026966 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/K | rs1280788914 |
-0.318 | 0.351 | N | 0.479 | 0.348 | 0.429435026966 | gnomAD-4.0.0 | 6.84348E-07 | None | None | None | None | N | None | 0 | 2.23874E-05 | 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 | 0.0699 | likely_benign | 0.0731 | benign | -0.843 | Destabilizing | 0.001 | N | 0.274 | neutral | D | 0.531256964 | None | None | N |
| T/C | 0.3676 | ambiguous | 0.3537 | ambiguous | -0.548 | Destabilizing | 0.836 | D | 0.544 | neutral | None | None | None | None | N |
| T/D | 0.2547 | likely_benign | 0.2803 | benign | 0.182 | Stabilizing | 0.418 | N | 0.531 | neutral | None | None | None | None | N |
| T/E | 0.2228 | likely_benign | 0.2355 | benign | 0.2 | Stabilizing | 0.418 | N | 0.483 | neutral | None | None | None | None | N |
| T/F | 0.1557 | likely_benign | 0.16 | benign | -0.963 | Destabilizing | 0.002 | N | 0.49 | neutral | None | None | None | None | N |
| T/G | 0.2135 | likely_benign | 0.2285 | benign | -1.104 | Destabilizing | 0.264 | N | 0.535 | neutral | None | None | None | None | N |
| T/H | 0.1661 | likely_benign | 0.1764 | benign | -1.298 | Destabilizing | 0.983 | D | 0.555 | neutral | None | None | None | None | N |
| T/I | 0.0954 | likely_benign | 0.0911 | benign | -0.242 | Destabilizing | 0.101 | N | 0.5 | neutral | N | 0.498779186 | None | None | N |
| T/K | 0.1432 | likely_benign | 0.1531 | benign | -0.503 | Destabilizing | 0.351 | N | 0.479 | neutral | N | 0.496432314 | None | None | N |
| T/L | 0.0865 | likely_benign | 0.0884 | benign | -0.242 | Destabilizing | 0.001 | N | 0.329 | neutral | None | None | None | None | N |
| T/M | 0.0896 | likely_benign | 0.0885 | benign | -0.102 | Destabilizing | 0.716 | D | 0.555 | neutral | None | None | None | None | N |
| T/N | 0.1017 | likely_benign | 0.1065 | benign | -0.513 | Destabilizing | 0.418 | N | 0.496 | neutral | None | None | None | None | N |
| T/P | 0.2242 | likely_benign | 0.2552 | benign | -0.41 | Destabilizing | 0.794 | D | 0.571 | neutral | D | 0.530332581 | None | None | N |
| T/Q | 0.1719 | likely_benign | 0.1823 | benign | -0.602 | Destabilizing | 0.716 | D | 0.559 | neutral | None | None | None | None | N |
| T/R | 0.0996 | likely_benign | 0.1119 | benign | -0.346 | Destabilizing | 0.655 | D | 0.569 | neutral | N | 0.427591091 | None | None | N |
| T/S | 0.0893 | likely_benign | 0.0923 | benign | -0.861 | Destabilizing | 0.007 | N | 0.343 | neutral | N | 0.459991511 | None | None | N |
| T/V | 0.0904 | likely_benign | 0.086 | benign | -0.41 | Destabilizing | 0.004 | N | 0.285 | neutral | None | None | None | None | N |
| T/W | 0.4377 | ambiguous | 0.4531 | ambiguous | -0.888 | Destabilizing | 0.983 | D | 0.565 | neutral | None | None | None | None | N |
| T/Y | 0.1739 | likely_benign | 0.1807 | benign | -0.632 | Destabilizing | 0.557 | D | 0.574 | 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.