Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7758 | 23497;23498;23499 | chr2:178720490;178720489;178720488 | chr2:179585217;179585216;179585215 |
| N2AB | 7441 | 22546;22547;22548 | chr2:178720490;178720489;178720488 | chr2:179585217;179585216;179585215 |
| N2A | 6514 | 19765;19766;19767 | chr2:178720490;178720489;178720488 | chr2:179585217;179585216;179585215 |
| 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/N | rs1464026759  |
-0.969 | 0.417 | N | 0.593 | 0.176 | 0.236890367714 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/N | rs1464026759 |
-0.969 | 0.417 | N | 0.593 | 0.176 | 0.236890367714 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1464026759 |
-0.969 | 0.417 | N | 0.593 | 0.176 | 0.236890367714 | gnomAD-4.0.0 | 4.33825E-06 | None | None | None | None | N | None | 4.00491E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54305E-06 | 0 | 1.60128E-05 |
| S/R | rs1402117670 |
-0.498 | 0.688 | N | 0.564 | 0.293 | 0.339074221408 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/R | rs1402117670 |
-0.498 | 0.688 | N | 0.564 | 0.293 | 0.339074221408 | gnomAD-4.0.0 | 4.78991E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99546E-07 | 5.79737E-05 | 1.65684E-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 | 0.0967 | likely_benign | 0.1017 | benign | -0.651 | Destabilizing | 0.009 | N | 0.257 | neutral | None | None | None | None | N |
| S/C | 0.1418 | likely_benign | 0.1539 | benign | -0.624 | Destabilizing | 1.0 | D | 0.663 | neutral | D | 0.531118104 | None | None | N |
| S/D | 0.7323 | likely_pathogenic | 0.7656 | pathogenic | -1.833 | Destabilizing | 0.943 | D | 0.609 | neutral | None | None | None | None | N |
| S/E | 0.7243 | likely_pathogenic | 0.7491 | pathogenic | -1.629 | Destabilizing | 0.919 | D | 0.571 | neutral | None | None | None | None | N |
| S/F | 0.2181 | likely_benign | 0.2399 | benign | -0.536 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| S/G | 0.1849 | likely_benign | 0.1985 | benign | -1.05 | Destabilizing | 0.015 | N | 0.247 | neutral | D | 0.535715847 | None | None | N |
| S/H | 0.4108 | ambiguous | 0.4406 | ambiguous | -1.552 | Destabilizing | 0.998 | D | 0.666 | neutral | None | None | None | None | N |
| S/I | 0.211 | likely_benign | 0.2178 | benign | 0.358 | Stabilizing | 0.992 | D | 0.693 | prob.neutral | D | 0.536966641 | None | None | N |
| S/K | 0.8222 | likely_pathogenic | 0.8432 | pathogenic | -0.323 | Destabilizing | 0.998 | D | 0.548 | neutral | None | None | None | None | N |
| S/L | 0.1336 | likely_benign | 0.1523 | benign | 0.358 | Stabilizing | 0.986 | D | 0.667 | neutral | None | None | None | None | N |
| S/M | 0.2391 | likely_benign | 0.2434 | benign | 0.287 | Stabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| S/N | 0.2827 | likely_benign | 0.2996 | benign | -1.183 | Destabilizing | 0.417 | N | 0.593 | neutral | N | 0.504123504 | None | None | N |
| S/P | 0.9813 | likely_pathogenic | 0.9854 | pathogenic | 0.057 | Stabilizing | 0.943 | D | 0.714 | prob.delet. | None | None | None | None | N |
| S/Q | 0.5951 | likely_pathogenic | 0.6226 | pathogenic | -0.87 | Destabilizing | 0.991 | D | 0.635 | neutral | None | None | None | None | N |
| S/R | 0.7013 | likely_pathogenic | 0.7343 | pathogenic | -0.786 | Destabilizing | 0.688 | D | 0.564 | neutral | N | 0.501101841 | None | None | N |
| S/T | 0.0985 | likely_benign | 0.0992 | benign | -0.722 | Destabilizing | 0.001 | N | 0.239 | neutral | N | 0.443320187 | None | None | N |
| S/V | 0.1995 | likely_benign | 0.2126 | benign | 0.057 | Stabilizing | 0.623 | D | 0.541 | neutral | None | None | None | None | N |
| S/W | 0.4526 | ambiguous | 0.4824 | ambiguous | -0.94 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2163 | likely_benign | 0.2367 | benign | -0.439 | Destabilizing | 0.999 | D | 0.672 | 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.