Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35440 | 106543;106544;106545 | chr2:178530297;178530296;178530295 | chr2:179395024;179395023;179395022 |
| N2AB | 33799 | 101620;101621;101622 | chr2:178530297;178530296;178530295 | chr2:179395024;179395023;179395022 |
| N2A | 32872 | 98839;98840;98841 | chr2:178530297;178530296;178530295 | chr2:179395024;179395023;179395022 |
| N2B | 26375 | 79348;79349;79350 | chr2:178530297;178530296;178530295 | chr2:179395024;179395023;179395022 |
| Novex-1 | 26500 | 79723;79724;79725 | chr2:178530297;178530296;178530295 | chr2:179395024;179395023;179395022 |
| Novex-2 | 26567 | 79924;79925;79926 | chr2:178530297;178530296;178530295 | chr2:179395024;179395023;179395022 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | None | N | 0.197 | 0.129 | 0.0401082797425 | gnomAD-4.0.0 | 1.5927E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86198E-06 | 0 | 0 |
| A/V | rs747111465  |
0.727 | None | N | 0.229 | 0.072 | 0.176091768786 | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | I | None | 0 | 2.03063E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs747111465 |
0.727 | None | N | 0.229 | 0.072 | 0.176091768786 | gnomAD-4.0.0 | 1.11496E-05 | None | None | None | None | I | None | 0 | 1.60095E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4032 | ambiguous | 0.4305 | ambiguous | -0.275 | Destabilizing | 0.177 | N | 0.407 | neutral | None | None | None | None | I |
| A/D | 0.2328 | likely_benign | 0.2312 | benign | -0.785 | Destabilizing | 0.006 | N | 0.465 | neutral | None | None | None | None | I |
| A/E | 0.1826 | likely_benign | 0.1835 | benign | -0.666 | Destabilizing | 0.005 | N | 0.409 | neutral | N | 0.366091555 | None | None | I |
| A/F | 0.1839 | likely_benign | 0.1916 | benign | -0.323 | Destabilizing | 0.029 | N | 0.591 | neutral | None | None | None | None | I |
| A/G | 0.1566 | likely_benign | 0.1636 | benign | -0.801 | Destabilizing | 0.005 | N | 0.319 | neutral | N | 0.486748464 | None | None | I |
| A/H | 0.3317 | likely_benign | 0.3403 | ambiguous | -1.17 | Destabilizing | 0.177 | N | 0.539 | neutral | None | None | None | None | I |
| A/I | 0.1318 | likely_benign | 0.1424 | benign | 0.589 | Stabilizing | None | N | 0.265 | neutral | None | None | None | None | I |
| A/K | 0.301 | likely_benign | 0.3156 | benign | -0.492 | Destabilizing | None | N | 0.264 | neutral | None | None | None | None | I |
| A/L | 0.113 | likely_benign | 0.1178 | benign | 0.589 | Stabilizing | 0.001 | N | 0.352 | neutral | None | None | None | None | I |
| A/M | 0.1506 | likely_benign | 0.1572 | benign | 0.404 | Stabilizing | 0.096 | N | 0.46 | neutral | None | None | None | None | I |
| A/N | 0.1947 | likely_benign | 0.1988 | benign | -0.527 | Destabilizing | 0.015 | N | 0.491 | neutral | None | None | None | None | I |
| A/P | 0.4479 | ambiguous | 0.4833 | ambiguous | 0.304 | Stabilizing | 0.022 | N | 0.482 | neutral | N | 0.416811163 | None | None | I |
| A/Q | 0.2572 | likely_benign | 0.2623 | benign | -0.419 | Destabilizing | 0.029 | N | 0.485 | neutral | None | None | None | None | I |
| A/R | 0.2288 | likely_benign | 0.2443 | benign | -0.59 | Destabilizing | 0.015 | N | 0.484 | neutral | None | None | None | None | I |
| A/S | 0.0818 | likely_benign | 0.0839 | benign | -0.965 | Destabilizing | None | N | 0.197 | neutral | N | 0.413904144 | None | None | I |
| A/T | 0.0712 | likely_benign | 0.0733 | benign | -0.715 | Destabilizing | None | N | 0.191 | neutral | N | 0.373518959 | None | None | I |
| A/V | 0.0913 | likely_benign | 0.0947 | benign | 0.304 | Stabilizing | None | N | 0.229 | neutral | N | 0.4315299 | None | None | I |
| A/W | 0.5111 | ambiguous | 0.5486 | ambiguous | -0.966 | Destabilizing | 0.712 | D | 0.601 | neutral | None | None | None | None | I |
| A/Y | 0.2967 | likely_benign | 0.3197 | benign | -0.33 | Destabilizing | 0.177 | N | 0.591 | neutral | None | None | None | None | I |
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.