Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8823 | 26692;26693;26694 | chr2:178714307;178714306;178714305 | chr2:179579034;179579033;179579032 |
| N2AB | 8506 | 25741;25742;25743 | chr2:178714307;178714306;178714305 | chr2:179579034;179579033;179579032 |
| N2A | 7579 | 22960;22961;22962 | chr2:178714307;178714306;178714305 | chr2:179579034;179579033;179579032 |
| 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/K | rs368151971  |
-0.326 | 0.002 | N | 0.166 | 0.229 | 0.0986583533028 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| T/K | rs368151971 |
-0.326 | 0.002 | N | 0.166 | 0.229 | 0.0986583533028 | gnomAD-4.0.0 | 6.84809E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52054E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs368151971 |
-0.109 | 0.186 | D | 0.267 | 0.156 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 1.29266E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| T/M | rs368151971 |
-0.109 | 0.186 | D | 0.267 | 0.156 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| T/M | rs368151971 |
-0.109 | 0.186 | D | 0.267 | 0.156 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| T/M | rs368151971 |
-0.109 | 0.186 | D | 0.267 | 0.156 | None | gnomAD-4.0.0 | 1.98452E-05 | None | None | None | None | N | None | 8.00598E-05 | 1.66756E-05 | None | 0 | 2.22965E-05 | None | 0 | 1.6518E-04 | 1.52711E-05 | 0 | 8.00641E-05 |
| T/R | None | None | 0.604 | N | 0.561 | 0.195 | 0.345632371893 | gnomAD-4.0.0 | 6.84809E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00333E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0712 | likely_benign | 0.0727 | benign | -1.1 | Destabilizing | 0.003 | N | 0.266 | neutral | N | 0.514665784 | None | None | N |
| T/C | 0.3484 | ambiguous | 0.4126 | ambiguous | -0.806 | Destabilizing | 0.906 | D | 0.576 | neutral | None | None | None | None | N |
| T/D | 0.2688 | likely_benign | 0.2754 | benign | -0.315 | Destabilizing | 0.026 | N | 0.489 | neutral | None | None | None | None | N |
| T/E | 0.2284 | likely_benign | 0.2247 | benign | -0.278 | Destabilizing | 0.081 | N | 0.471 | neutral | None | None | None | None | N |
| T/F | 0.1114 | likely_benign | 0.116 | benign | -1.154 | Destabilizing | 0.848 | D | 0.649 | neutral | None | None | None | None | N |
| T/G | 0.1791 | likely_benign | 0.1978 | benign | -1.376 | Destabilizing | 0.181 | N | 0.421 | neutral | None | None | None | None | N |
| T/H | 0.1559 | likely_benign | 0.1583 | benign | -1.602 | Destabilizing | 0.809 | D | 0.607 | neutral | None | None | None | None | N |
| T/I | 0.0902 | likely_benign | 0.0956 | benign | -0.444 | Destabilizing | 0.041 | N | 0.507 | neutral | None | None | None | None | N |
| T/K | 0.1354 | likely_benign | 0.1373 | benign | -0.704 | Destabilizing | 0.002 | N | 0.166 | neutral | N | 0.493250362 | None | None | N |
| T/L | 0.0634 | likely_benign | 0.0672 | benign | -0.444 | Destabilizing | 0.018 | N | 0.323 | neutral | None | None | None | None | N |
| T/M | 0.0667 | likely_benign | 0.0714 | benign | -0.174 | Destabilizing | 0.186 | N | 0.267 | neutral | D | 0.535369131 | None | None | N |
| T/N | 0.0822 | likely_benign | 0.0839 | benign | -0.777 | Destabilizing | 0.001 | N | 0.111 | neutral | None | None | None | None | N |
| T/P | 0.1589 | likely_benign | 0.1781 | benign | -0.632 | Destabilizing | 0.164 | N | 0.593 | neutral | N | 0.498445121 | None | None | N |
| T/Q | 0.1498 | likely_benign | 0.1504 | benign | -0.922 | Destabilizing | 0.218 | N | 0.576 | neutral | None | None | None | None | N |
| T/R | 0.1095 | likely_benign | 0.1103 | benign | -0.536 | Destabilizing | 0.604 | D | 0.561 | neutral | N | 0.521938473 | None | None | N |
| T/S | 0.0781 | likely_benign | 0.0799 | benign | -1.132 | Destabilizing | None | N | 0.119 | neutral | N | 0.461580661 | None | None | N |
| T/V | 0.0792 | likely_benign | 0.0847 | benign | -0.632 | Destabilizing | 0.001 | N | 0.143 | neutral | None | None | None | None | N |
| T/W | 0.3817 | ambiguous | 0.3764 | ambiguous | -1.032 | Destabilizing | 0.992 | D | 0.594 | neutral | None | None | None | None | N |
| T/Y | 0.159 | likely_benign | 0.1533 | benign | -0.791 | Destabilizing | 0.919 | 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.