Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8149 | 24670;24671;24672 | chr2:178718755;178718754;178718753 | chr2:179583482;179583481;179583480 |
| N2AB | 7832 | 23719;23720;23721 | chr2:178718755;178718754;178718753 | chr2:179583482;179583481;179583480 |
| N2A | 6905 | 20938;20939;20940 | chr2:178718755;178718754;178718753 | chr2:179583482;179583481;179583480 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/F | None | None | 0.984 | N | 0.751 | 0.434 | 0.591025817267 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| S/P | None | None | 0.984 | N | 0.651 | 0.356 | 0.26547132957 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-05 |
| S/Y | rs1278756355  |
-0.378 | 0.995 | N | 0.756 | 0.388 | 0.586295999888 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/Y | rs1278756355 |
-0.378 | 0.995 | N | 0.756 | 0.388 | 0.586295999888 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 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 | 0.1052 | likely_benign | 0.1057 | benign | -0.83 | Destabilizing | 0.026 | N | 0.382 | neutral | N | 0.459553228 | None | None | N |
| S/C | 0.1647 | likely_benign | 0.1828 | benign | -0.401 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.5142567 | None | None | N |
| S/D | 0.6307 | likely_pathogenic | 0.6415 | pathogenic | -1.02 | Destabilizing | 0.919 | D | 0.555 | neutral | None | None | None | None | N |
| S/E | 0.6792 | likely_pathogenic | 0.6861 | pathogenic | -0.834 | Destabilizing | 0.919 | D | 0.565 | neutral | None | None | None | None | N |
| S/F | 0.256 | likely_benign | 0.2743 | benign | -0.795 | Destabilizing | 0.984 | D | 0.751 | deleterious | N | 0.456185867 | None | None | N |
| S/G | 0.1562 | likely_benign | 0.1664 | benign | -1.21 | Destabilizing | 0.851 | D | 0.607 | neutral | None | None | None | None | N |
| S/H | 0.3857 | ambiguous | 0.4086 | ambiguous | -1.531 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| S/I | 0.1934 | likely_benign | 0.2043 | benign | 0.138 | Stabilizing | 0.976 | D | 0.685 | prob.neutral | None | None | None | None | N |
| S/K | 0.7671 | likely_pathogenic | 0.7889 | pathogenic | 0.15 | Stabilizing | 0.919 | D | 0.563 | neutral | None | None | None | None | N |
| S/L | 0.1295 | likely_benign | 0.1367 | benign | 0.138 | Stabilizing | 0.851 | D | 0.637 | neutral | None | None | None | None | N |
| S/M | 0.2626 | likely_benign | 0.2755 | benign | 0.091 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/N | 0.2282 | likely_benign | 0.2389 | benign | -0.485 | Destabilizing | 0.919 | D | 0.585 | neutral | None | None | None | None | N |
| S/P | 0.9284 | likely_pathogenic | 0.938 | pathogenic | -0.151 | Destabilizing | 0.984 | D | 0.651 | neutral | N | 0.483697871 | None | None | N |
| S/Q | 0.5916 | likely_pathogenic | 0.6071 | pathogenic | -0.291 | Destabilizing | 0.988 | D | 0.576 | neutral | None | None | None | None | N |
| S/R | 0.6023 | likely_pathogenic | 0.6349 | pathogenic | -0.264 | Destabilizing | 0.976 | D | 0.674 | neutral | None | None | None | None | N |
| S/T | 0.0712 | likely_benign | 0.0714 | benign | -0.231 | Destabilizing | 0.046 | N | 0.354 | neutral | N | 0.356772198 | None | None | N |
| S/V | 0.2154 | likely_benign | 0.2217 | benign | -0.151 | Destabilizing | 0.851 | D | 0.628 | neutral | None | None | None | None | N |
| S/W | 0.4444 | ambiguous | 0.4629 | ambiguous | -0.981 | Destabilizing | 0.999 | D | 0.768 | deleterious | None | None | None | None | N |
| S/Y | 0.2251 | likely_benign | 0.2386 | benign | -0.531 | Destabilizing | 0.995 | D | 0.756 | deleterious | N | 0.452716373 | 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.