Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19500 | 58723;58724;58725 | chr2:178593802;178593801;178593800 | chr2:179458529;179458528;179458527 |
| N2AB | 17859 | 53800;53801;53802 | chr2:178593802;178593801;178593800 | chr2:179458529;179458528;179458527 |
| N2A | 16932 | 51019;51020;51021 | chr2:178593802;178593801;178593800 | chr2:179458529;179458528;179458527 |
| N2B | 10435 | 31528;31529;31530 | chr2:178593802;178593801;178593800 | chr2:179458529;179458528;179458527 |
| Novex-1 | 10560 | 31903;31904;31905 | chr2:178593802;178593801;178593800 | chr2:179458529;179458528;179458527 |
| Novex-2 | 10627 | 32104;32105;32106 | chr2:178593802;178593801;178593800 | chr2:179458529;179458528;179458527 |
| 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/F | rs1465284889  |
-0.659 | 1.0 | D | 0.9 | 0.495 | 0.741150988799 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs1465284889 |
-0.659 | 1.0 | D | 0.9 | 0.495 | 0.741150988799 | gnomAD-4.0.0 | 6.8451E-07 | None | None | None | None | N | None | 0 | 2.23994E-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 | 0.1503 | likely_benign | 0.1476 | benign | -0.789 | Destabilizing | 0.997 | D | 0.529 | neutral | N | 0.476060181 | None | None | N |
| S/C | 0.1552 | likely_benign | 0.1554 | benign | -0.607 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.507054905 | None | None | N |
| S/D | 0.8393 | likely_pathogenic | 0.8315 | pathogenic | -0.633 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| S/E | 0.8078 | likely_pathogenic | 0.8053 | pathogenic | -0.562 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| S/F | 0.452 | ambiguous | 0.429 | ambiguous | -0.901 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.533134878 | None | None | N |
| S/G | 0.1785 | likely_benign | 0.1822 | benign | -1.1 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| S/H | 0.4574 | ambiguous | 0.4603 | ambiguous | -1.599 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| S/I | 0.4986 | ambiguous | 0.5039 | ambiguous | -0.048 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| S/K | 0.8339 | likely_pathogenic | 0.8121 | pathogenic | -0.542 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| S/L | 0.2707 | likely_benign | 0.261 | benign | -0.048 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| S/M | 0.4224 | ambiguous | 0.4065 | ambiguous | 0.1 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| S/N | 0.3818 | ambiguous | 0.4051 | ambiguous | -0.803 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| S/P | 0.9892 | likely_pathogenic | 0.9885 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.521778572 | None | None | N |
| S/Q | 0.6684 | likely_pathogenic | 0.6751 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| S/R | 0.7232 | likely_pathogenic | 0.7204 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| S/T | 0.1184 | likely_benign | 0.1203 | benign | -0.688 | Destabilizing | 0.999 | D | 0.552 | neutral | N | 0.511230329 | None | None | N |
| S/V | 0.4576 | ambiguous | 0.4669 | ambiguous | -0.26 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/W | 0.5937 | likely_pathogenic | 0.5791 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| S/Y | 0.4312 | ambiguous | 0.4128 | ambiguous | -0.619 | Destabilizing | 1.0 | D | 0.904 | deleterious | N | 0.515195207 | 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.