Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15902 | 47929;47930;47931 | chr2:178617381;178617380;178617379 | chr2:179482108;179482107;179482106 |
| N2AB | 14261 | 43006;43007;43008 | chr2:178617381;178617380;178617379 | chr2:179482108;179482107;179482106 |
| N2A | 13334 | 40225;40226;40227 | chr2:178617381;178617380;178617379 | chr2:179482108;179482107;179482106 |
| N2B | 6837 | 20734;20735;20736 | chr2:178617381;178617380;178617379 | chr2:179482108;179482107;179482106 |
| Novex-1 | 6962 | 21109;21110;21111 | chr2:178617381;178617380;178617379 | chr2:179482108;179482107;179482106 |
| Novex-2 | 7029 | 21310;21311;21312 | chr2:178617381;178617380;178617379 | chr2:179482108;179482107;179482106 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs561284948  |
-0.623 | 0.989 | N | 0.532 | 0.352 | None | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 3.10256E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs561284948 |
-0.623 | 0.989 | N | 0.532 | 0.352 | None | gnomAD-3.1.2 | 9.22E-05 | None | None | None | None | N | None | 2.657E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 4.78011E-04 |
| G/E | rs561284948 |
-0.623 | 0.989 | N | 0.532 | 0.352 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/E | rs561284948 |
-0.623 | 0.989 | N | 0.532 | 0.352 | None | gnomAD-4.0.0 | 1.57486E-05 | None | None | None | None | N | None | 2.44061E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 5.12806E-06 | 0 | 1.62644E-05 |
| G/R | rs1368589210 |
-0.16 | 1.0 | D | 0.689 | 0.407 | 0.604892984849 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.57895E-04 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1368589210 |
-0.16 | 1.0 | D | 0.689 | 0.407 | 0.604892984849 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9516E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1368589210 |
-0.16 | 1.0 | D | 0.689 | 0.407 | 0.604892984849 | gnomAD-4.0.0 | 6.58571E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9516E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.729 | 0.392 | 0.609718080597 | gnomAD-4.0.0 | 6.9664E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.07308E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.349 | ambiguous | 0.3331 | benign | -0.279 | Destabilizing | 0.999 | D | 0.517 | neutral | N | 0.479568131 | None | None | N |
| G/C | 0.4526 | ambiguous | 0.4235 | ambiguous | -0.95 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/D | 0.1761 | likely_benign | 0.159 | benign | -0.803 | Destabilizing | 1.0 | D | 0.545 | neutral | None | None | None | None | N |
| G/E | 0.2308 | likely_benign | 0.2099 | benign | -0.963 | Destabilizing | 0.989 | D | 0.532 | neutral | N | 0.476709487 | None | None | N |
| G/F | 0.7941 | likely_pathogenic | 0.7814 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/H | 0.5298 | ambiguous | 0.5143 | ambiguous | -0.395 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/I | 0.6158 | likely_pathogenic | 0.5892 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/K | 0.4812 | ambiguous | 0.4715 | ambiguous | -0.828 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| G/L | 0.6877 | likely_pathogenic | 0.6635 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/M | 0.6847 | likely_pathogenic | 0.6712 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/N | 0.2506 | likely_benign | 0.2381 | benign | -0.471 | Destabilizing | 1.0 | D | 0.533 | neutral | None | None | None | None | N |
| G/P | 0.9247 | likely_pathogenic | 0.9194 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/Q | 0.3972 | ambiguous | 0.3794 | ambiguous | -0.759 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| G/R | 0.4509 | ambiguous | 0.4305 | ambiguous | -0.365 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.556400062 | None | None | N |
| G/S | 0.1889 | likely_benign | 0.1779 | benign | -0.577 | Destabilizing | 1.0 | D | 0.54 | neutral | None | None | None | None | N |
| G/T | 0.3316 | likely_benign | 0.3171 | benign | -0.679 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/V | 0.4757 | ambiguous | 0.449 | ambiguous | -0.413 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.573282365 | None | None | N |
| G/W | 0.6052 | likely_pathogenic | 0.5885 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/Y | 0.6347 | likely_pathogenic | 0.6212 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | 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.