Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2164 | 6715;6716;6717 | chr2:178775374;178775373;178775372 | chr2:179640101;179640100;179640099 |
| N2AB | 2164 | 6715;6716;6717 | chr2:178775374;178775373;178775372 | chr2:179640101;179640100;179640099 |
| N2A | 2164 | 6715;6716;6717 | chr2:178775374;178775373;178775372 | chr2:179640101;179640100;179640099 |
| N2B | 2118 | 6577;6578;6579 | chr2:178775374;178775373;178775372 | chr2:179640101;179640100;179640099 |
| Novex-1 | 2118 | 6577;6578;6579 | chr2:178775374;178775373;178775372 | chr2:179640101;179640100;179640099 |
| Novex-2 | 2118 | 6577;6578;6579 | chr2:178775374;178775373;178775372 | chr2:179640101;179640100;179640099 |
| Novex-3 | 2164 | 6715;6716;6717 | chr2:178775374;178775373;178775372 | chr2:179640101;179640100;179640099 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 0.998 | D | 0.619 | 0.555 | 0.57068417637 | gnomAD-4.0.0 | 6.84115E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99302E-07 | 0 | 0 |
| A/T | rs56285559  |
-0.569 | 1.0 | D | 0.757 | 0.563 | None | gnomAD-2.1.1 | 1.38128E-04 | None | None | None | None | I | None | 0 | 5.65E-05 | None | 0 | 1.60885E-03 | None | 0 | None | 0 | 3.11E-05 | 1.38735E-04 |
| A/T | rs56285559 |
-0.569 | 1.0 | D | 0.757 | 0.563 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 7.70416E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs56285559 |
-0.569 | 1.0 | D | 0.757 | 0.563 | None | gnomAD-4.0.0 | 4.52329E-05 | None | None | None | None | I | None | 1.33511E-05 | 3.33411E-05 | None | 0 | 1.24833E-03 | None | 0 | 0 | 7.62713E-06 | 1.09798E-05 | 6.40164E-05 |
| A/V | rs1338410239 |
0.558 | 0.999 | D | 0.732 | 0.478 | 0.621066101732 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | I | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.76E-06 | 0 |
| A/V | rs1338410239 |
0.558 | 0.999 | D | 0.732 | 0.478 | 0.621066101732 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs1338410239 |
0.558 | 0.999 | D | 0.732 | 0.478 | 0.621066101732 | gnomAD-4.0.0 | 6.40352E-06 | None | None | None | None | I | None | 1.69125E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.56723E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8233 | likely_pathogenic | 0.8516 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| A/D | 0.985 | likely_pathogenic | 0.9907 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| A/E | 0.9912 | likely_pathogenic | 0.9943 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.743411481 | None | None | I |
| A/F | 0.9862 | likely_pathogenic | 0.9889 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| A/G | 0.2172 | likely_benign | 0.2332 | benign | -0.999 | Destabilizing | 0.434 | N | 0.395 | neutral | N | 0.519330924 | None | None | I |
| A/H | 0.9912 | likely_pathogenic | 0.9937 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| A/I | 0.9688 | likely_pathogenic | 0.9792 | pathogenic | 0.488 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| A/K | 0.9978 | likely_pathogenic | 0.9986 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| A/L | 0.9308 | likely_pathogenic | 0.9442 | pathogenic | 0.488 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| A/M | 0.9382 | likely_pathogenic | 0.955 | pathogenic | 0.277 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| A/N | 0.9554 | likely_pathogenic | 0.9688 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| A/P | 0.9968 | likely_pathogenic | 0.9979 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.874 | deleterious | D | 0.743856656 | None | None | I |
| A/Q | 0.9797 | likely_pathogenic | 0.9854 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| A/R | 0.9907 | likely_pathogenic | 0.9935 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| A/S | 0.2002 | likely_benign | 0.23 | benign | -1.145 | Destabilizing | 0.998 | D | 0.619 | neutral | D | 0.633941778 | None | None | I |
| A/T | 0.4448 | ambiguous | 0.6755 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.594926159 | None | None | I |
| A/V | 0.8323 | likely_pathogenic | 0.8791 | pathogenic | 0.178 | Stabilizing | 0.999 | D | 0.732 | prob.delet. | D | 0.583761443 | None | None | I |
| A/W | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| A/Y | 0.9931 | likely_pathogenic | 0.9948 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
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.