Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9237 | 27934;27935;27936 | chr2:178712121;178712120;178712119 | chr2:179576848;179576847;179576846 |
| N2AB | 8920 | 26983;26984;26985 | chr2:178712121;178712120;178712119 | chr2:179576848;179576847;179576846 |
| N2A | 7993 | 24202;24203;24204 | chr2:178712121;178712120;178712119 | chr2:179576848;179576847;179576846 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs766638714  |
-0.434 | 0.543 | D | 0.279 | 0.23 | 0.244539031024 | gnomAD-2.1.1 | 1.21408E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.69023E-03 | None | 0 | None | 0 | 0 | 1.4041E-04 |
| S/A | rs766638714 |
-0.434 | 0.543 | D | 0.279 | 0.23 | 0.244539031024 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.73812E-03 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | rs766638714 |
-0.434 | 0.543 | D | 0.279 | 0.23 | 0.244539031024 | gnomAD-4.0.0 | 2.4788E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.24568E-04 | None | 0 | 0 | 0 | 0 | 4.80338E-05 |
| S/F | rs1297278620 |
-0.469 | 0.999 | N | 0.733 | 0.625 | 0.825885774221 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/F | rs1297278620 |
-0.469 | 0.999 | N | 0.733 | 0.625 | 0.825885774221 | gnomAD-4.0.0 | 2.05262E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99471E-07 | 2.31884E-05 | 0 |
| S/Y | rs1297278620 |
-0.296 | 0.999 | N | 0.731 | 0.547 | 0.821864051555 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/Y | rs1297278620 |
-0.296 | 0.999 | N | 0.731 | 0.547 | 0.821864051555 | gnomAD-4.0.0 | 2.05262E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99471E-07 | 1.15942E-05 | 1.65651E-05 |
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 | 0.0943 | likely_benign | 0.1059 | benign | -0.663 | Destabilizing | 0.543 | D | 0.279 | neutral | D | 0.530752745 | None | None | N |
| S/C | 0.1518 | likely_benign | 0.1628 | benign | -0.306 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.528594153 | None | None | N |
| S/D | 0.6803 | likely_pathogenic | 0.7415 | pathogenic | -0.448 | Destabilizing | 0.996 | D | 0.569 | neutral | None | None | None | None | N |
| S/E | 0.7367 | likely_pathogenic | 0.799 | pathogenic | -0.363 | Destabilizing | 0.996 | D | 0.537 | neutral | None | None | None | None | N |
| S/F | 0.1231 | likely_benign | 0.1655 | benign | -0.556 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | N | 0.501842617 | None | None | N |
| S/G | 0.2243 | likely_benign | 0.2588 | benign | -1.0 | Destabilizing | 0.992 | D | 0.524 | neutral | None | None | None | None | N |
| S/H | 0.3956 | ambiguous | 0.4578 | ambiguous | -1.367 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| S/I | 0.1776 | likely_benign | 0.2173 | benign | 0.152 | Stabilizing | 0.999 | D | 0.704 | prob.neutral | None | None | None | None | N |
| S/K | 0.8283 | likely_pathogenic | 0.8699 | pathogenic | -0.59 | Destabilizing | 0.996 | D | 0.54 | neutral | None | None | None | None | N |
| S/L | 0.1077 | likely_benign | 0.1205 | benign | 0.152 | Stabilizing | 0.992 | D | 0.633 | neutral | None | None | None | None | N |
| S/M | 0.2193 | likely_benign | 0.2405 | benign | 0.237 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| S/N | 0.2449 | likely_benign | 0.2836 | benign | -0.764 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| S/P | 0.9589 | likely_pathogenic | 0.9732 | pathogenic | -0.084 | Destabilizing | 0.998 | D | 0.706 | prob.neutral | D | 0.539443479 | None | None | N |
| S/Q | 0.598 | likely_pathogenic | 0.664 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| S/R | 0.7301 | likely_pathogenic | 0.7986 | pathogenic | -0.692 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/T | 0.094 | likely_benign | 0.1017 | benign | -0.645 | Destabilizing | 0.989 | D | 0.507 | neutral | N | 0.460391369 | None | None | N |
| S/V | 0.1753 | likely_benign | 0.2119 | benign | -0.084 | Destabilizing | 0.998 | D | 0.684 | prob.neutral | None | None | None | None | N |
| S/W | 0.295 | likely_benign | 0.3828 | ambiguous | -0.689 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/Y | 0.1597 | likely_benign | 0.1983 | benign | -0.358 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | N | 0.493119658 | 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.