Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18584 | 55975;55976;55977 | chr2:178601154;178601153;178601152 | chr2:179465881;179465880;179465879 |
| N2AB | 16943 | 51052;51053;51054 | chr2:178601154;178601153;178601152 | chr2:179465881;179465880;179465879 |
| N2A | 16016 | 48271;48272;48273 | chr2:178601154;178601153;178601152 | chr2:179465881;179465880;179465879 |
| N2B | 9519 | 28780;28781;28782 | chr2:178601154;178601153;178601152 | chr2:179465881;179465880;179465879 |
| Novex-1 | 9644 | 29155;29156;29157 | chr2:178601154;178601153;178601152 | chr2:179465881;179465880;179465879 |
| Novex-2 | 9711 | 29356;29357;29358 | chr2:178601154;178601153;178601152 | chr2:179465881;179465880;179465879 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs760979964  |
-0.922 | 0.267 | N | 0.272 | 0.195 | 0.259272394797 | gnomAD-2.1.1 | 5.29E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.42E-05 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs760979964 |
-0.922 | 0.267 | N | 0.272 | 0.195 | 0.259272394797 | gnomAD-4.0.0 | 5.03976E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.13294E-05 | None | 0 | 0 | 4.62974E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3036 | likely_benign | 0.2654 | benign | -2.03 | Highly Destabilizing | 0.525 | D | 0.436 | neutral | None | None | None | None | N |
| I/C | 0.6718 | likely_pathogenic | 0.6273 | pathogenic | -1.01 | Destabilizing | 0.998 | D | 0.542 | neutral | None | None | None | None | N |
| I/D | 0.7265 | likely_pathogenic | 0.6704 | pathogenic | -2.019 | Highly Destabilizing | 0.842 | D | 0.609 | neutral | None | None | None | None | N |
| I/E | 0.4362 | ambiguous | 0.4207 | ambiguous | -1.97 | Destabilizing | 0.842 | D | 0.612 | neutral | None | None | None | None | N |
| I/F | 0.2908 | likely_benign | 0.216 | benign | -1.368 | Destabilizing | 0.966 | D | 0.512 | neutral | N | 0.427339509 | None | None | N |
| I/G | 0.5428 | ambiguous | 0.4807 | ambiguous | -2.393 | Highly Destabilizing | 0.842 | D | 0.599 | neutral | None | None | None | None | N |
| I/H | 0.5809 | likely_pathogenic | 0.4978 | ambiguous | -1.782 | Destabilizing | 0.998 | D | 0.604 | neutral | None | None | None | None | N |
| I/K | 0.35 | ambiguous | 0.3126 | benign | -1.657 | Destabilizing | 0.842 | D | 0.611 | neutral | None | None | None | None | N |
| I/L | 0.1287 | likely_benign | 0.1111 | benign | -1.062 | Destabilizing | 0.267 | N | 0.258 | neutral | N | 0.391880142 | None | None | N |
| I/M | 0.1233 | likely_benign | 0.1078 | benign | -0.698 | Destabilizing | 0.989 | D | 0.503 | neutral | N | 0.441596886 | None | None | N |
| I/N | 0.3057 | likely_benign | 0.2559 | benign | -1.486 | Destabilizing | 0.934 | D | 0.604 | neutral | N | 0.42006682 | None | None | N |
| I/P | 0.8811 | likely_pathogenic | 0.8484 | pathogenic | -1.358 | Destabilizing | 0.974 | D | 0.616 | neutral | None | None | None | None | N |
| I/Q | 0.3393 | likely_benign | 0.3201 | benign | -1.624 | Destabilizing | 0.974 | D | 0.623 | neutral | None | None | None | None | N |
| I/R | 0.2966 | likely_benign | 0.2596 | benign | -1.036 | Destabilizing | 0.974 | D | 0.619 | neutral | None | None | None | None | N |
| I/S | 0.2574 | likely_benign | 0.2294 | benign | -2.004 | Highly Destabilizing | 0.669 | D | 0.502 | neutral | N | 0.37102208 | None | None | N |
| I/T | 0.1884 | likely_benign | 0.1571 | benign | -1.856 | Destabilizing | 0.007 | N | 0.227 | neutral | N | 0.333138482 | None | None | N |
| I/V | 0.0727 | likely_benign | 0.0647 | benign | -1.358 | Destabilizing | 0.267 | N | 0.272 | neutral | N | 0.403809289 | None | None | N |
| I/W | 0.8505 | likely_pathogenic | 0.785 | pathogenic | -1.595 | Destabilizing | 0.998 | D | 0.64 | neutral | None | None | None | None | N |
| I/Y | 0.5943 | likely_pathogenic | 0.5332 | ambiguous | -1.382 | Destabilizing | 0.991 | D | 0.583 | 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.