Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26816 | 80671;80672;80673 | chr2:178565686;178565685;178565684 | chr2:179430413;179430412;179430411 |
| N2AB | 25175 | 75748;75749;75750 | chr2:178565686;178565685;178565684 | chr2:179430413;179430412;179430411 |
| N2A | 24248 | 72967;72968;72969 | chr2:178565686;178565685;178565684 | chr2:179430413;179430412;179430411 |
| N2B | 17751 | 53476;53477;53478 | chr2:178565686;178565685;178565684 | chr2:179430413;179430412;179430411 |
| Novex-1 | 17876 | 53851;53852;53853 | chr2:178565686;178565685;178565684 | chr2:179430413;179430412;179430411 |
| Novex-2 | 17943 | 54052;54053;54054 | chr2:178565686;178565685;178565684 | chr2:179430413;179430412;179430411 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1177780119  |
-1.992 | 0.183 | N | 0.399 | 0.192 | 0.568358697712 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.39224E-04 | 8.92E-06 | 0 |
| V/A | rs1177780119 |
-1.992 | 0.183 | N | 0.399 | 0.192 | 0.568358697712 | gnomAD-4.0.0 | 1.1141E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.52927E-05 | 0 | 8.57746E-06 | 0 | 0 |
| V/I | rs774092000 |
-0.361 | 0.004 | N | 0.181 | 0.062 | 0.357929162469 | gnomAD-2.1.1 | 3.63E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 5.35E-05 | 0 |
| V/I | rs774092000 |
-0.361 | 0.004 | N | 0.181 | 0.062 | 0.357929162469 | 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 |
| V/I | rs774092000 |
-0.361 | 0.004 | N | 0.181 | 0.062 | 0.357929162469 | gnomAD-4.0.0 | 1.42548E-05 | None | None | None | None | N | None | 1.33554E-05 | 3.33456E-05 | None | 0 | 0 | None | 0 | 1.64474E-04 | 1.52588E-05 | 0 | 1.60169E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1631 | likely_benign | 0.1434 | benign | -2.197 | Highly Destabilizing | 0.183 | N | 0.399 | neutral | N | 0.464999229 | None | None | N |
| V/C | 0.5861 | likely_pathogenic | 0.5889 | pathogenic | -1.593 | Destabilizing | 0.983 | D | 0.579 | neutral | None | None | None | None | N |
| V/D | 0.3953 | ambiguous | 0.3551 | ambiguous | -2.878 | Highly Destabilizing | 0.921 | D | 0.63 | neutral | N | 0.479064559 | None | None | N |
| V/E | 0.2585 | likely_benign | 0.2434 | benign | -2.652 | Highly Destabilizing | 0.593 | D | 0.606 | neutral | None | None | None | None | N |
| V/F | 0.1628 | likely_benign | 0.1447 | benign | -1.256 | Destabilizing | 0.408 | N | 0.555 | neutral | N | 0.506128367 | None | None | N |
| V/G | 0.3507 | ambiguous | 0.3101 | benign | -2.717 | Highly Destabilizing | 0.523 | D | 0.623 | neutral | N | 0.485193852 | None | None | N |
| V/H | 0.447 | ambiguous | 0.4396 | ambiguous | -2.447 | Highly Destabilizing | 0.716 | D | 0.621 | neutral | None | None | None | None | N |
| V/I | 0.0671 | likely_benign | 0.0633 | benign | -0.734 | Destabilizing | 0.004 | N | 0.181 | neutral | N | 0.41652787 | None | None | N |
| V/K | 0.3796 | ambiguous | 0.3677 | ambiguous | -1.884 | Destabilizing | 0.593 | D | 0.589 | neutral | None | None | None | None | N |
| V/L | 0.1217 | likely_benign | 0.1198 | benign | -0.734 | Destabilizing | 0.001 | N | 0.22 | neutral | N | 0.499605039 | None | None | N |
| V/M | 0.1006 | likely_benign | 0.0981 | benign | -0.791 | Destabilizing | 0.716 | D | 0.583 | neutral | None | None | None | None | N |
| V/N | 0.2908 | likely_benign | 0.2468 | benign | -2.223 | Highly Destabilizing | 0.94 | D | 0.632 | neutral | None | None | None | None | N |
| V/P | 0.9692 | likely_pathogenic | 0.9636 | pathogenic | -1.198 | Destabilizing | 0.94 | D | 0.601 | neutral | None | None | None | None | N |
| V/Q | 0.2826 | likely_benign | 0.2856 | benign | -2.059 | Highly Destabilizing | 0.94 | D | 0.587 | neutral | None | None | None | None | N |
| V/R | 0.3046 | likely_benign | 0.2973 | benign | -1.676 | Destabilizing | 0.836 | D | 0.635 | neutral | None | None | None | None | N |
| V/S | 0.2051 | likely_benign | 0.1775 | benign | -2.788 | Highly Destabilizing | 0.593 | D | 0.575 | neutral | None | None | None | None | N |
| V/T | 0.1385 | likely_benign | 0.1218 | benign | -2.433 | Highly Destabilizing | 0.418 | N | 0.472 | neutral | None | None | None | None | N |
| V/W | 0.6584 | likely_pathogenic | 0.6559 | pathogenic | -1.801 | Destabilizing | 0.951 | D | 0.625 | neutral | None | None | None | None | N |
| V/Y | 0.4355 | ambiguous | 0.4239 | ambiguous | -1.439 | Destabilizing | 0.004 | N | 0.375 | 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.