Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16508 | 49747;49748;49749 | chr2:178613761;178613760;178613759 | chr2:179478488;179478487;179478486 |
| N2AB | 14867 | 44824;44825;44826 | chr2:178613761;178613760;178613759 | chr2:179478488;179478487;179478486 |
| N2A | 13940 | 42043;42044;42045 | chr2:178613761;178613760;178613759 | chr2:179478488;179478487;179478486 |
| N2B | 7443 | 22552;22553;22554 | chr2:178613761;178613760;178613759 | chr2:179478488;179478487;179478486 |
| Novex-1 | 7568 | 22927;22928;22929 | chr2:178613761;178613760;178613759 | chr2:179478488;179478487;179478486 |
| Novex-2 | 7635 | 23128;23129;23130 | chr2:178613761;178613760;178613759 | chr2:179478488;179478487;179478486 |
| 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/K | rs1429836100  |
None | 0.993 | N | 0.663 | 0.406 | 0.469333501611 | gnomAD-4.0.0 | 7.97443E-06 | None | None | None | None | N | None | 0 | 2.28812E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.21278E-04 |
| T/R | None | None | 0.997 | N | 0.717 | 0.402 | 0.520427616228 | gnomAD-4.0.0 | 1.59489E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86521E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1712 | likely_benign | 0.1498 | benign | -1.048 | Destabilizing | 0.977 | D | 0.481 | neutral | D | 0.575861649 | None | None | N |
| T/C | 0.5543 | ambiguous | 0.3458 | ambiguous | -0.544 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/D | 0.8259 | likely_pathogenic | 0.7696 | pathogenic | -0.534 | Destabilizing | 0.998 | D | 0.659 | neutral | None | None | None | None | N |
| T/E | 0.727 | likely_pathogenic | 0.6614 | pathogenic | -0.416 | Destabilizing | 0.995 | D | 0.661 | neutral | None | None | None | None | N |
| T/F | 0.7176 | likely_pathogenic | 0.6435 | pathogenic | -0.889 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| T/G | 0.5236 | ambiguous | 0.3945 | ambiguous | -1.415 | Destabilizing | 0.998 | D | 0.636 | neutral | None | None | None | None | N |
| T/H | 0.6109 | likely_pathogenic | 0.5213 | ambiguous | -1.534 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| T/I | 0.4949 | ambiguous | 0.434 | ambiguous | -0.118 | Destabilizing | 0.997 | D | 0.708 | prob.delet. | D | 0.53852684 | None | None | N |
| T/K | 0.3774 | ambiguous | 0.3123 | benign | -0.579 | Destabilizing | 0.993 | D | 0.663 | neutral | N | 0.495377677 | None | None | N |
| T/L | 0.1745 | likely_benign | 0.131 | benign | -0.118 | Destabilizing | 0.991 | D | 0.551 | neutral | None | None | None | None | N |
| T/M | 0.159 | likely_benign | 0.1311 | benign | 0.005 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/N | 0.3074 | likely_benign | 0.2219 | benign | -0.917 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| T/P | 0.2676 | likely_benign | 0.2327 | benign | -0.395 | Destabilizing | 0.117 | N | 0.357 | neutral | D | 0.526465218 | None | None | N |
| T/Q | 0.4686 | ambiguous | 0.3813 | ambiguous | -0.818 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/R | 0.3258 | likely_benign | 0.2755 | benign | -0.597 | Destabilizing | 0.997 | D | 0.717 | prob.delet. | N | 0.50308932 | None | None | N |
| T/S | 0.2784 | likely_benign | 0.224 | benign | -1.231 | Destabilizing | 0.977 | D | 0.47 | neutral | D | 0.56516056 | None | None | N |
| T/V | 0.327 | likely_benign | 0.2599 | benign | -0.395 | Destabilizing | 0.991 | D | 0.516 | neutral | None | None | None | None | N |
| T/W | 0.9422 | likely_pathogenic | 0.914 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/Y | 0.7354 | likely_pathogenic | 0.6497 | pathogenic | -0.617 | Destabilizing | 0.999 | D | 0.741 | 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.