Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26087 | 78484;78485;78486 | chr2:178567873;178567872;178567871 | chr2:179432600;179432599;179432598 |
| N2AB | 24446 | 73561;73562;73563 | chr2:178567873;178567872;178567871 | chr2:179432600;179432599;179432598 |
| N2A | 23519 | 70780;70781;70782 | chr2:178567873;178567872;178567871 | chr2:179432600;179432599;179432598 |
| N2B | 17022 | 51289;51290;51291 | chr2:178567873;178567872;178567871 | chr2:179432600;179432599;179432598 |
| Novex-1 | 17147 | 51664;51665;51666 | chr2:178567873;178567872;178567871 | chr2:179432600;179432599;179432598 |
| Novex-2 | 17214 | 51865;51866;51867 | chr2:178567873;178567872;178567871 | chr2:179432600;179432599;179432598 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/V | rs1462639599  |
0.382 | 1.0 | N | 0.773 | 0.64 | 0.534191878353 | 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 |
| D/V | rs1462639599 |
0.382 | 1.0 | N | 0.773 | 0.64 | 0.534191878353 | gnomAD-4.0.0 | 1.59178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| D/Y | rs1169880412 |
0.122 | 1.0 | N | 0.817 | 0.609 | 0.594452868026 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.88E-06 | 0 |
| D/Y | rs1169880412 |
0.122 | 1.0 | N | 0.817 | 0.609 | 0.594452868026 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/Y | rs1169880412 |
0.122 | 1.0 | N | 0.817 | 0.609 | 0.594452868026 | gnomAD-4.0.0 | 4.95844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93423E-06 | 1.09791E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.758 | likely_pathogenic | 0.8268 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.513243553 | None | None | N |
| D/C | 0.9653 | likely_pathogenic | 0.9766 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/E | 0.695 | likely_pathogenic | 0.7706 | pathogenic | -0.32 | Destabilizing | 0.999 | D | 0.512 | neutral | N | 0.509723246 | None | None | N |
| D/F | 0.9476 | likely_pathogenic | 0.9598 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/G | 0.8449 | likely_pathogenic | 0.898 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.473971996 | None | None | N |
| D/H | 0.8561 | likely_pathogenic | 0.8917 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.863 | deleterious | N | 0.476279855 | None | None | N |
| D/I | 0.9171 | likely_pathogenic | 0.9475 | pathogenic | 0.166 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/K | 0.9544 | likely_pathogenic | 0.9722 | pathogenic | 0.277 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/L | 0.8705 | likely_pathogenic | 0.9032 | pathogenic | 0.166 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/M | 0.9606 | likely_pathogenic | 0.975 | pathogenic | 0.218 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/N | 0.3764 | ambiguous | 0.4626 | ambiguous | -0.029 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.469087379 | None | None | N |
| D/P | 0.9742 | likely_pathogenic | 0.9819 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/Q | 0.9232 | likely_pathogenic | 0.9529 | pathogenic | 0.002 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/R | 0.9647 | likely_pathogenic | 0.9771 | pathogenic | 0.477 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/S | 0.5403 | ambiguous | 0.6278 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| D/T | 0.8686 | likely_pathogenic | 0.9104 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/V | 0.8335 | likely_pathogenic | 0.8905 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.773 | deleterious | N | 0.48814314 | None | None | N |
| D/W | 0.9916 | likely_pathogenic | 0.9941 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/Y | 0.7103 | likely_pathogenic | 0.7676 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.817 | deleterious | N | 0.499664029 | 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.