Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33150 | 99673;99674;99675 | chr2:178537759;178537758;178537757 | chr2:179402486;179402485;179402484 |
| N2AB | 31509 | 94750;94751;94752 | chr2:178537759;178537758;178537757 | chr2:179402486;179402485;179402484 |
| N2A | 30582 | 91969;91970;91971 | chr2:178537759;178537758;178537757 | chr2:179402486;179402485;179402484 |
| N2B | 24085 | 72478;72479;72480 | chr2:178537759;178537758;178537757 | chr2:179402486;179402485;179402484 |
| Novex-1 | 24210 | 72853;72854;72855 | chr2:178537759;178537758;178537757 | chr2:179402486;179402485;179402484 |
| Novex-2 | 24277 | 73054;73055;73056 | chr2:178537759;178537758;178537757 | chr2:179402486;179402485;179402484 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs779055111  |
-0.092 | 0.999 | N | 0.761 | 0.466 | 0.432604763906 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs779055111 |
-0.092 | 0.999 | N | 0.761 | 0.466 | 0.432604763906 | 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 |
| S/P | rs779055111 |
-0.092 | 0.999 | N | 0.761 | 0.466 | 0.432604763906 | gnomAD-4.0.0 | 6.57445E-06 | None | None | None | None | N | None | 2.41336E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0889 | likely_benign | 0.0977 | benign | -0.355 | Destabilizing | 0.893 | D | 0.419 | neutral | N | 0.513798993 | None | None | N |
| S/C | 0.2461 | likely_benign | 0.2706 | benign | -0.086 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.495242344 | None | None | N |
| S/D | 0.562 | ambiguous | 0.5829 | pathogenic | -0.182 | Destabilizing | 0.997 | D | 0.603 | neutral | None | None | None | None | N |
| S/E | 0.6288 | likely_pathogenic | 0.6404 | pathogenic | -0.279 | Destabilizing | 0.998 | D | 0.594 | neutral | None | None | None | None | N |
| S/F | 0.2478 | likely_benign | 0.2833 | benign | -0.953 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.505027581 | None | None | N |
| S/G | 0.1619 | likely_benign | 0.1845 | benign | -0.47 | Destabilizing | 0.999 | D | 0.499 | neutral | None | None | None | None | N |
| S/H | 0.4439 | ambiguous | 0.4602 | ambiguous | -1.021 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/I | 0.195 | likely_benign | 0.2089 | benign | -0.177 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| S/K | 0.8019 | likely_pathogenic | 0.8122 | pathogenic | -0.504 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| S/L | 0.1283 | likely_benign | 0.1449 | benign | -0.177 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| S/M | 0.2031 | likely_benign | 0.2208 | benign | 0.236 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| S/N | 0.1645 | likely_benign | 0.1761 | benign | -0.166 | Destabilizing | 0.977 | D | 0.572 | neutral | None | None | None | None | N |
| S/P | 0.9739 | likely_pathogenic | 0.9791 | pathogenic | -0.208 | Destabilizing | 0.999 | D | 0.761 | deleterious | N | 0.485518653 | None | None | N |
| S/Q | 0.5655 | likely_pathogenic | 0.5772 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| S/R | 0.7596 | likely_pathogenic | 0.79 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| S/T | 0.0737 | likely_benign | 0.0766 | benign | -0.246 | Destabilizing | 0.97 | D | 0.479 | neutral | N | 0.436895647 | None | None | N |
| S/V | 0.1899 | likely_benign | 0.1996 | benign | -0.208 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| S/W | 0.5712 | likely_pathogenic | 0.6232 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| S/Y | 0.296 | likely_benign | 0.335 | benign | -0.693 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.495330662 | 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.