Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6920 | 20983;20984;20985 | chr2:178725446;178725445;178725444 | chr2:179590173;179590172;179590171 |
| N2AB | 6603 | 20032;20033;20034 | chr2:178725446;178725445;178725444 | chr2:179590173;179590172;179590171 |
| N2A | 5676 | 17251;17252;17253 | chr2:178725446;178725445;178725444 | chr2:179590173;179590172;179590171 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 0.007 | N | 0.091 | 0.053 | 0.162503812791 | gnomAD-4.0.0 | 1.59388E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43724E-05 | 0 |
| A/V | rs886042589  |
0.053 | 0.016 | N | 0.14 | 0.24 | 0.212008924253 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs886042589 |
0.053 | 0.016 | N | 0.14 | 0.24 | 0.212008924253 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs886042589 |
0.053 | 0.016 | N | 0.14 | 0.24 | 0.212008924253 | gnomAD-4.0.0 | 2.56559E-06 | None | None | None | None | N | None | 1.69256E-05 | 0 | None | 0 | 2.42789E-05 | 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 | 0.4281 | ambiguous | 0.4106 | ambiguous | -0.681 | Destabilizing | 0.972 | D | 0.291 | neutral | None | None | None | None | N |
| A/D | 0.1707 | likely_benign | 0.1556 | benign | -0.666 | Destabilizing | 0.549 | D | 0.337 | neutral | N | 0.474311445 | None | None | N |
| A/E | 0.1433 | likely_benign | 0.1346 | benign | -0.824 | Destabilizing | 0.617 | D | 0.277 | neutral | None | None | None | None | N |
| A/F | 0.2538 | likely_benign | 0.2437 | benign | -0.883 | Destabilizing | 0.92 | D | 0.339 | neutral | None | None | None | None | N |
| A/G | 0.0996 | likely_benign | 0.0947 | benign | -0.206 | Destabilizing | 0.201 | N | 0.218 | neutral | N | 0.489800973 | None | None | N |
| A/H | 0.3421 | ambiguous | 0.3304 | benign | -0.258 | Destabilizing | 0.977 | D | 0.312 | neutral | None | None | None | None | N |
| A/I | 0.1609 | likely_benign | 0.1558 | benign | -0.303 | Destabilizing | 0.447 | N | 0.285 | neutral | None | None | None | None | N |
| A/K | 0.2549 | likely_benign | 0.2436 | benign | -0.619 | Destabilizing | 0.447 | N | 0.267 | neutral | None | None | None | None | N |
| A/L | 0.1305 | likely_benign | 0.1269 | benign | -0.303 | Destabilizing | 0.25 | N | 0.283 | neutral | None | None | None | None | N |
| A/M | 0.1835 | likely_benign | 0.1717 | benign | -0.404 | Destabilizing | 0.92 | D | 0.3 | neutral | None | None | None | None | N |
| A/N | 0.16 | likely_benign | 0.145 | benign | -0.242 | Destabilizing | 0.447 | N | 0.328 | neutral | None | None | None | None | N |
| A/P | 0.1948 | likely_benign | 0.1892 | benign | -0.232 | Destabilizing | 0.712 | D | 0.315 | neutral | N | 0.509426883 | None | None | N |
| A/Q | 0.2153 | likely_benign | 0.204 | benign | -0.54 | Destabilizing | 0.85 | D | 0.311 | neutral | None | None | None | None | N |
| A/R | 0.247 | likely_benign | 0.2448 | benign | -0.13 | Destabilizing | 0.85 | D | 0.313 | neutral | None | None | None | None | N |
| A/S | 0.0817 | likely_benign | 0.0777 | benign | -0.387 | Destabilizing | 0.007 | N | 0.109 | neutral | N | 0.430635239 | None | None | N |
| A/T | 0.0791 | likely_benign | 0.078 | benign | -0.476 | Destabilizing | 0.007 | N | 0.091 | neutral | N | 0.449127786 | None | None | N |
| A/V | 0.1021 | likely_benign | 0.1005 | benign | -0.232 | Destabilizing | 0.016 | N | 0.14 | neutral | N | 0.474961685 | None | None | N |
| A/W | 0.5634 | ambiguous | 0.5451 | ambiguous | -1.023 | Destabilizing | 0.992 | D | 0.408 | neutral | None | None | None | None | N |
| A/Y | 0.3542 | ambiguous | 0.3356 | benign | -0.678 | Destabilizing | 0.972 | D | 0.341 | 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.