Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33441 | 100546;100547;100548 | chr2:178536426;178536425;178536424 | chr2:179401153;179401152;179401151 |
| N2AB | 31800 | 95623;95624;95625 | chr2:178536426;178536425;178536424 | chr2:179401153;179401152;179401151 |
| N2A | 30873 | 92842;92843;92844 | chr2:178536426;178536425;178536424 | chr2:179401153;179401152;179401151 |
| N2B | 24376 | 73351;73352;73353 | chr2:178536426;178536425;178536424 | chr2:179401153;179401152;179401151 |
| Novex-1 | 24501 | 73726;73727;73728 | chr2:178536426;178536425;178536424 | chr2:179401153;179401152;179401151 |
| Novex-2 | 24568 | 73927;73928;73929 | chr2:178536426;178536425;178536424 | chr2:179401153;179401152;179401151 |
| 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/T | rs759113549  |
-0.261 | 0.055 | N | 0.476 | 0.118 | 0.0482279557977 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/T | rs759113549 |
-0.261 | 0.055 | N | 0.476 | 0.118 | 0.0482279557977 | gnomAD-4.0.0 | 3.18476E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86664E-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 | 0.0514 | likely_benign | 0.0463 | benign | -0.39 | Destabilizing | None | N | 0.188 | neutral | N | 0.442810394 | None | None | N |
| S/C | 0.1383 | likely_benign | 0.1299 | benign | -0.352 | Destabilizing | 0.883 | D | 0.615 | neutral | N | 0.498973108 | None | None | N |
| S/D | 0.421 | ambiguous | 0.4157 | ambiguous | 0.019 | Stabilizing | 0.272 | N | 0.477 | neutral | None | None | None | None | N |
| S/E | 0.4261 | ambiguous | 0.4371 | ambiguous | -0.039 | Destabilizing | 0.272 | N | 0.419 | neutral | None | None | None | None | N |
| S/F | 0.2484 | likely_benign | 0.2261 | benign | -0.734 | Destabilizing | 0.667 | D | 0.684 | prob.neutral | N | 0.480117989 | None | None | N |
| S/G | 0.1172 | likely_benign | 0.1034 | benign | -0.573 | Destabilizing | 0.072 | N | 0.441 | neutral | None | None | None | None | N |
| S/H | 0.3605 | ambiguous | 0.3572 | ambiguous | -1.094 | Destabilizing | 0.968 | D | 0.613 | neutral | None | None | None | None | N |
| S/I | 0.1618 | likely_benign | 0.1515 | benign | -0.03 | Destabilizing | 0.567 | D | 0.609 | neutral | None | None | None | None | N |
| S/K | 0.5243 | ambiguous | 0.5507 | ambiguous | -0.669 | Destabilizing | 0.272 | N | 0.43 | neutral | None | None | None | None | N |
| S/L | 0.0994 | likely_benign | 0.0893 | benign | -0.03 | Destabilizing | 0.157 | N | 0.588 | neutral | None | None | None | None | N |
| S/M | 0.1786 | likely_benign | 0.1604 | benign | 0.113 | Stabilizing | 0.909 | D | 0.62 | neutral | None | None | None | None | N |
| S/N | 0.1613 | likely_benign | 0.152 | benign | -0.448 | Destabilizing | 0.431 | N | 0.487 | neutral | None | None | None | None | N |
| S/P | 0.088 | likely_benign | 0.0847 | benign | -0.117 | Destabilizing | 0.497 | N | 0.565 | neutral | N | 0.405446872 | None | None | N |
| S/Q | 0.3895 | ambiguous | 0.394 | ambiguous | -0.641 | Destabilizing | 0.726 | D | 0.535 | neutral | None | None | None | None | N |
| S/R | 0.4691 | ambiguous | 0.5058 | ambiguous | -0.5 | Destabilizing | 0.567 | D | 0.57 | neutral | None | None | None | None | N |
| S/T | 0.0793 | likely_benign | 0.0737 | benign | -0.495 | Destabilizing | 0.055 | N | 0.476 | neutral | N | 0.390149345 | None | None | N |
| S/V | 0.1439 | likely_benign | 0.1328 | benign | -0.117 | Destabilizing | 0.157 | N | 0.573 | neutral | None | None | None | None | N |
| S/W | 0.4525 | ambiguous | 0.4561 | ambiguous | -0.749 | Destabilizing | 0.968 | D | 0.736 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2205 | likely_benign | 0.2194 | benign | -0.483 | Destabilizing | 0.667 | D | 0.683 | prob.neutral | N | 0.509227387 | 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.