Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34280 | 103063;103064;103065 | chr2:178533777;178533776;178533775 | chr2:179398504;179398503;179398502 |
| N2AB | 32639 | 98140;98141;98142 | chr2:178533777;178533776;178533775 | chr2:179398504;179398503;179398502 |
| N2A | 31712 | 95359;95360;95361 | chr2:178533777;178533776;178533775 | chr2:179398504;179398503;179398502 |
| N2B | 25215 | 75868;75869;75870 | chr2:178533777;178533776;178533775 | chr2:179398504;179398503;179398502 |
| Novex-1 | 25340 | 76243;76244;76245 | chr2:178533777;178533776;178533775 | chr2:179398504;179398503;179398502 |
| Novex-2 | 25407 | 76444;76445;76446 | chr2:178533777;178533776;178533775 | chr2:179398504;179398503;179398502 |
| 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/I | rs886042505  |
-0.198 | 1.0 | D | 0.751 | 0.532 | 0.613626781881 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs886042505 |
-0.198 | 1.0 | D | 0.751 | 0.532 | 0.613626781881 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs886042505 |
-0.198 | 1.0 | D | 0.751 | 0.532 | 0.613626781881 | gnomAD-4.0.0 | 3.84252E-06 | None | None | None | None | N | None | 0 | 5.08302E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4467 | ambiguous | 0.422 | ambiguous | -1.107 | Destabilizing | 0.999 | D | 0.519 | neutral | N | 0.500101764 | None | None | N |
| T/C | 0.8616 | likely_pathogenic | 0.8857 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/D | 0.9714 | likely_pathogenic | 0.9456 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/E | 0.953 | likely_pathogenic | 0.9068 | pathogenic | -0.026 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| T/F | 0.9063 | likely_pathogenic | 0.8596 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/G | 0.8257 | likely_pathogenic | 0.8144 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/H | 0.9081 | likely_pathogenic | 0.8452 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| T/I | 0.8117 | likely_pathogenic | 0.7315 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.52322934 | None | None | N |
| T/K | 0.9048 | likely_pathogenic | 0.8054 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/L | 0.5718 | likely_pathogenic | 0.54 | ambiguous | -0.291 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| T/M | 0.3893 | ambiguous | 0.3559 | ambiguous | -0.194 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/N | 0.7642 | likely_pathogenic | 0.6611 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.52676829 | None | None | N |
| T/P | 0.7974 | likely_pathogenic | 0.775 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.538044076 | None | None | N |
| T/Q | 0.8772 | likely_pathogenic | 0.791 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/R | 0.87 | likely_pathogenic | 0.7612 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/S | 0.5624 | ambiguous | 0.5061 | ambiguous | -0.978 | Destabilizing | 0.999 | D | 0.499 | neutral | N | 0.502083276 | None | None | N |
| T/V | 0.6376 | likely_pathogenic | 0.5703 | pathogenic | -0.532 | Destabilizing | 0.999 | D | 0.544 | neutral | None | None | None | None | N |
| T/W | 0.9704 | likely_pathogenic | 0.9555 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| T/Y | 0.9229 | likely_pathogenic | 0.8824 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.756 | 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.