Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6772 | 20539;20540;20541 | chr2:178726008;178726007;178726006 | chr2:179590735;179590734;179590733 |
| N2AB | 6455 | 19588;19589;19590 | chr2:178726008;178726007;178726006 | chr2:179590735;179590734;179590733 |
| N2A | 5528 | 16807;16808;16809 | chr2:178726008;178726007;178726006 | chr2:179590735;179590734;179590733 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs765440640  |
-0.674 | 0.788 | N | 0.515 | 0.246 | 0.348764635752 | gnomAD-2.1.1 | 4.31E-06 | None | None | None | None | N | None | 6.88E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/N | rs765440640 |
-0.674 | 0.788 | N | 0.515 | 0.246 | 0.348764635752 | 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 |
| T/N | rs765440640 |
-0.674 | 0.788 | N | 0.515 | 0.246 | 0.348764635752 | gnomAD-4.0.0 | 1.26378E-06 | None | None | None | None | N | None | 1.35752E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.60279E-07 | 0 | 0 |
| T/S | rs765440640 |
-1.156 | 0.197 | N | 0.395 | 0.158 | 0.148003135375 | gnomAD-2.1.1 | 1.72E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.47406E-04 | None | 0 | 0 | 0 |
| T/S | rs765440640 |
-1.156 | 0.197 | N | 0.395 | 0.158 | 0.148003135375 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| T/S | rs765440640 |
-1.156 | 0.197 | N | 0.395 | 0.158 | 0.148003135375 | gnomAD-4.0.0 | 4.42321E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.18063E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0921 | likely_benign | 0.0804 | benign | -0.975 | Destabilizing | 0.051 | N | 0.306 | neutral | N | 0.402126926 | None | None | N |
| T/C | 0.4387 | ambiguous | 0.3653 | ambiguous | -0.719 | Destabilizing | 0.995 | D | 0.582 | neutral | None | None | None | None | N |
| T/D | 0.6735 | likely_pathogenic | 0.5786 | pathogenic | -0.622 | Destabilizing | 0.831 | D | 0.576 | neutral | None | None | None | None | N |
| T/E | 0.5703 | likely_pathogenic | 0.47 | ambiguous | -0.515 | Destabilizing | 0.943 | D | 0.564 | neutral | None | None | None | None | N |
| T/F | 0.3343 | likely_benign | 0.2647 | benign | -0.659 | Destabilizing | 0.968 | D | 0.632 | neutral | None | None | None | None | N |
| T/G | 0.304 | likely_benign | 0.2419 | benign | -1.346 | Destabilizing | 0.009 | N | 0.316 | neutral | None | None | None | None | N |
| T/H | 0.4566 | ambiguous | 0.3677 | ambiguous | -1.499 | Destabilizing | 0.996 | D | 0.585 | neutral | None | None | None | None | N |
| T/I | 0.1719 | likely_benign | 0.1369 | benign | -0.04 | Destabilizing | 0.011 | N | 0.332 | neutral | N | 0.422040838 | None | None | N |
| T/K | 0.4015 | ambiguous | 0.3362 | benign | -0.794 | Destabilizing | 0.919 | D | 0.534 | neutral | None | None | None | None | N |
| T/L | 0.1365 | likely_benign | 0.1096 | benign | -0.04 | Destabilizing | 0.26 | N | 0.375 | neutral | None | None | None | None | N |
| T/M | 0.0949 | likely_benign | 0.0835 | benign | 0.04 | Stabilizing | 0.306 | N | 0.359 | neutral | None | None | None | None | N |
| T/N | 0.2193 | likely_benign | 0.1662 | benign | -1.06 | Destabilizing | 0.788 | D | 0.515 | neutral | N | 0.488606072 | None | None | N |
| T/P | 0.3141 | likely_benign | 0.2951 | benign | -0.317 | Destabilizing | 0.919 | D | 0.625 | neutral | D | 0.535233058 | None | None | N |
| T/Q | 0.4155 | ambiguous | 0.3346 | benign | -1.004 | Destabilizing | 0.974 | D | 0.648 | neutral | None | None | None | None | N |
| T/R | 0.3573 | ambiguous | 0.2937 | benign | -0.782 | Destabilizing | 0.984 | D | 0.647 | neutral | None | None | None | None | N |
| T/S | 0.1595 | likely_benign | 0.126 | benign | -1.362 | Destabilizing | 0.197 | N | 0.395 | neutral | N | 0.499696332 | None | None | N |
| T/V | 0.1295 | likely_benign | 0.1078 | benign | -0.317 | Destabilizing | 0.015 | N | 0.131 | neutral | None | None | None | None | N |
| T/W | 0.7854 | likely_pathogenic | 0.7236 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| T/Y | 0.3951 | ambiguous | 0.3196 | benign | -0.39 | Destabilizing | 0.995 | D | 0.647 | 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.