Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35370 | 106333;106334;106335 | chr2:178530507;178530506;178530505 | chr2:179395234;179395233;179395232 |
| N2AB | 33729 | 101410;101411;101412 | chr2:178530507;178530506;178530505 | chr2:179395234;179395233;179395232 |
| N2A | 32802 | 98629;98630;98631 | chr2:178530507;178530506;178530505 | chr2:179395234;179395233;179395232 |
| N2B | 26305 | 79138;79139;79140 | chr2:178530507;178530506;178530505 | chr2:179395234;179395233;179395232 |
| Novex-1 | 26430 | 79513;79514;79515 | chr2:178530507;178530506;178530505 | chr2:179395234;179395233;179395232 |
| Novex-2 | 26497 | 79714;79715;79716 | chr2:178530507;178530506;178530505 | chr2:179395234;179395233;179395232 |
| 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 | rs910216145  |
-1.09 | 0.911 | N | 0.574 | 0.183 | 0.230578612272 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| T/A | rs910216145 |
-1.09 | 0.911 | N | 0.574 | 0.183 | 0.230578612272 | 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 |
| T/A | rs910216145 |
-1.09 | 0.911 | N | 0.574 | 0.183 | 0.230578612272 | gnomAD-4.0.0 | 3.71781E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08522E-06 | 0 | 0 |
| T/I | None | None | 0.997 | N | 0.776 | 0.378 | 0.518970300747 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/N | rs536166568 |
-0.946 | 0.98 | N | 0.675 | 0.321 | 0.473616572423 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs536166568 |
-0.946 | 0.98 | N | 0.675 | 0.321 | 0.473616572423 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| T/N | rs536166568 |
-0.946 | 0.98 | N | 0.675 | 0.321 | 0.473616572423 | gnomAD-4.0.0 | 6.56633E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92753E-04 | 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 | 0.1217 | likely_benign | 0.1196 | benign | -1.007 | Destabilizing | 0.911 | D | 0.574 | neutral | N | 0.494671727 | None | None | N |
| T/C | 0.5474 | ambiguous | 0.5577 | ambiguous | -0.512 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/D | 0.6326 | likely_pathogenic | 0.6683 | pathogenic | -0.47 | Destabilizing | 0.985 | D | 0.753 | deleterious | None | None | None | None | N |
| T/E | 0.4791 | ambiguous | 0.5186 | ambiguous | -0.338 | Destabilizing | 0.985 | D | 0.738 | prob.delet. | None | None | None | None | N |
| T/F | 0.4641 | ambiguous | 0.4798 | ambiguous | -0.711 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| T/G | 0.388 | ambiguous | 0.3783 | ambiguous | -1.389 | Destabilizing | 0.985 | D | 0.708 | prob.delet. | None | None | None | None | N |
| T/H | 0.4847 | ambiguous | 0.521 | ambiguous | -1.454 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| T/I | 0.3109 | likely_benign | 0.3216 | benign | -0.033 | Destabilizing | 0.997 | D | 0.776 | deleterious | N | 0.495861001 | None | None | N |
| T/K | 0.4169 | ambiguous | 0.4535 | ambiguous | -0.518 | Destabilizing | 0.985 | D | 0.749 | deleterious | None | None | None | None | N |
| T/L | 0.2162 | likely_benign | 0.2214 | benign | -0.033 | Destabilizing | 0.993 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/M | 0.131 | likely_benign | 0.1309 | benign | 0.058 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/N | 0.2392 | likely_benign | 0.2598 | benign | -0.868 | Destabilizing | 0.98 | D | 0.675 | prob.neutral | N | 0.502355461 | None | None | N |
| T/P | 0.7121 | likely_pathogenic | 0.7683 | pathogenic | -0.324 | Destabilizing | 0.997 | D | 0.775 | deleterious | N | 0.514472235 | None | None | N |
| T/Q | 0.388 | ambiguous | 0.4219 | ambiguous | -0.757 | Destabilizing | 0.998 | D | 0.804 | deleterious | None | None | None | None | N |
| T/R | 0.3198 | likely_benign | 0.3639 | ambiguous | -0.572 | Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | None | N |
| T/S | 0.1831 | likely_benign | 0.1829 | benign | -1.204 | Destabilizing | 0.449 | N | 0.389 | neutral | N | 0.458521713 | None | None | N |
| T/V | 0.2498 | likely_benign | 0.2514 | benign | -0.324 | Destabilizing | 0.993 | D | 0.633 | neutral | None | None | None | None | N |
| T/W | 0.7818 | likely_pathogenic | 0.8012 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| T/Y | 0.4705 | ambiguous | 0.4975 | ambiguous | -0.434 | Destabilizing | 0.999 | D | 0.813 | deleterious | 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.