Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19682 | 59269;59270;59271 | chr2:178593075;178593074;178593073 | chr2:179457802;179457801;179457800 |
| N2AB | 18041 | 54346;54347;54348 | chr2:178593075;178593074;178593073 | chr2:179457802;179457801;179457800 |
| N2A | 17114 | 51565;51566;51567 | chr2:178593075;178593074;178593073 | chr2:179457802;179457801;179457800 |
| N2B | 10617 | 32074;32075;32076 | chr2:178593075;178593074;178593073 | chr2:179457802;179457801;179457800 |
| Novex-1 | 10742 | 32449;32450;32451 | chr2:178593075;178593074;178593073 | chr2:179457802;179457801;179457800 |
| Novex-2 | 10809 | 32650;32651;32652 | chr2:178593075;178593074;178593073 | chr2:179457802;179457801;179457800 |
| 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 | rs2050577486  |
None | 0.994 | N | 0.616 | 0.27 | 0.309839678437 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs2050577486 |
None | 0.994 | N | 0.616 | 0.27 | 0.309839678437 | gnomAD-4.0.0 | 6.57722E-06 | None | None | None | None | N | None | 0 | 6.55652E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1481744095 |
-0.859 | 0.999 | N | 0.681 | 0.332 | 0.333906830038 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 5.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs1481744095 |
-0.859 | 0.999 | N | 0.681 | 0.332 | 0.333906830038 | gnomAD-4.0.0 | 3.18883E-06 | None | None | None | None | N | None | 0 | 4.59601E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2174 | likely_benign | 0.2053 | benign | -0.568 | Destabilizing | 0.98 | D | 0.537 | neutral | None | None | None | None | N |
| S/C | 0.3051 | likely_benign | 0.3159 | benign | -0.53 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.49225556 | None | None | N |
| S/D | 0.7651 | likely_pathogenic | 0.7123 | pathogenic | -1.21 | Destabilizing | 0.996 | D | 0.619 | neutral | None | None | None | None | N |
| S/E | 0.9166 | likely_pathogenic | 0.9 | pathogenic | -1.159 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| S/F | 0.602 | likely_pathogenic | 0.5797 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| S/G | 0.1293 | likely_benign | 0.1315 | benign | -0.872 | Destabilizing | 0.104 | N | 0.337 | neutral | N | 0.420496469 | None | None | N |
| S/H | 0.7596 | likely_pathogenic | 0.7463 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| S/I | 0.8055 | likely_pathogenic | 0.7906 | pathogenic | 0.149 | Stabilizing | 0.999 | D | 0.773 | deleterious | N | 0.503358376 | None | None | N |
| S/K | 0.9794 | likely_pathogenic | 0.9763 | pathogenic | -0.902 | Destabilizing | 0.996 | D | 0.623 | neutral | None | None | None | None | N |
| S/L | 0.3561 | ambiguous | 0.3251 | benign | 0.149 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| S/M | 0.5695 | likely_pathogenic | 0.5608 | ambiguous | 0.39 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/N | 0.5532 | ambiguous | 0.5451 | ambiguous | -1.107 | Destabilizing | 0.994 | D | 0.616 | neutral | N | 0.518063088 | None | None | N |
| S/P | 0.946 | likely_pathogenic | 0.9236 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| S/Q | 0.8918 | likely_pathogenic | 0.889 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| S/R | 0.9721 | likely_pathogenic | 0.9687 | pathogenic | -0.903 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.490988112 | None | None | N |
| S/T | 0.3455 | ambiguous | 0.314 | benign | -0.9 | Destabilizing | 0.994 | D | 0.557 | neutral | N | 0.475592882 | None | None | N |
| S/V | 0.7674 | likely_pathogenic | 0.7456 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| S/W | 0.7401 | likely_pathogenic | 0.7295 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| S/Y | 0.5544 | ambiguous | 0.541 | ambiguous | -0.372 | Destabilizing | 1.0 | D | 0.788 | deleterious | 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.