Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9478 | 28657;28658;28659 | chr2:178710665;178710664;178710663 | chr2:179575392;179575391;179575390 |
| N2AB | 9161 | 27706;27707;27708 | chr2:178710665;178710664;178710663 | chr2:179575392;179575391;179575390 |
| N2A | 8234 | 24925;24926;24927 | chr2:178710665;178710664;178710663 | chr2:179575392;179575391;179575390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs1553887887  |
None | 0.379 | None | 0.591 | 0.227 | 0.409533910539 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| D/N | rs1201727409 |
None | 0.379 | None | 0.493 | 0.353 | 0.271763555656 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs1201727409 |
None | 0.379 | None | 0.493 | 0.353 | 0.271763555656 | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46985E-05 | 0 | 0 |
| D/Y | None | None | 0.681 | None | 0.688 | 0.458 | 0.689224899524 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.274 | likely_benign | 0.4132 | ambiguous | -0.462 | Destabilizing | 0.379 | N | 0.591 | neutral | None | None | None | None | I |
| D/C | 0.9122 | likely_pathogenic | 0.9714 | pathogenic | -0.217 | Destabilizing | 0.992 | D | 0.708 | prob.delet. | None | None | None | None | I |
| D/E | 0.4198 | ambiguous | 0.5995 | pathogenic | -0.505 | Destabilizing | 0.004 | N | 0.254 | neutral | None | None | None | None | I |
| D/F | 0.8557 | likely_pathogenic | 0.9366 | pathogenic | 0.186 | Stabilizing | 0.85 | D | 0.692 | prob.neutral | None | None | None | None | I |
| D/G | 0.3889 | ambiguous | 0.4995 | ambiguous | -0.841 | Destabilizing | 0.549 | D | 0.495 | neutral | None | None | None | None | I |
| D/H | 0.6679 | likely_pathogenic | 0.8447 | pathogenic | -0.088 | Destabilizing | 0.02 | N | 0.459 | neutral | None | None | None | None | I |
| D/I | 0.6792 | likely_pathogenic | 0.9044 | pathogenic | 0.549 | Stabilizing | 0.739 | D | 0.641 | neutral | None | None | None | None | I |
| D/K | 0.7602 | likely_pathogenic | 0.9078 | pathogenic | -0.239 | Destabilizing | 0.447 | N | 0.517 | neutral | None | None | None | None | I |
| D/L | 0.7557 | likely_pathogenic | 0.9067 | pathogenic | 0.549 | Stabilizing | 0.447 | N | 0.633 | neutral | None | None | None | None | I |
| D/M | 0.8984 | likely_pathogenic | 0.9669 | pathogenic | 0.87 | Stabilizing | 0.977 | D | 0.671 | neutral | None | None | None | None | I |
| D/N | 0.2313 | likely_benign | 0.375 | ambiguous | -0.778 | Destabilizing | 0.379 | N | 0.493 | neutral | None | None | None | None | I |
| D/P | 0.9861 | likely_pathogenic | 0.9945 | pathogenic | 0.238 | Stabilizing | 0.92 | D | 0.557 | neutral | None | None | None | None | I |
| D/Q | 0.687 | likely_pathogenic | 0.8655 | pathogenic | -0.613 | Destabilizing | 0.127 | N | 0.292 | neutral | None | None | None | None | I |
| D/R | 0.7969 | likely_pathogenic | 0.9187 | pathogenic | -0.029 | Destabilizing | 0.85 | D | 0.625 | neutral | None | None | None | None | I |
| D/S | 0.2783 | likely_benign | 0.3958 | ambiguous | -1.051 | Destabilizing | 0.447 | N | 0.407 | neutral | None | None | None | None | I |
| D/T | 0.5249 | ambiguous | 0.729 | pathogenic | -0.731 | Destabilizing | 0.617 | D | 0.501 | neutral | None | None | None | None | I |
| D/V | 0.4123 | ambiguous | 0.6922 | pathogenic | 0.238 | Stabilizing | 0.036 | N | 0.513 | neutral | None | None | None | None | I |
| D/W | 0.9837 | likely_pathogenic | 0.994 | pathogenic | 0.429 | Stabilizing | 0.992 | D | 0.727 | prob.delet. | None | None | None | None | I |
| D/Y | 0.4814 | ambiguous | 0.733 | pathogenic | 0.459 | Stabilizing | 0.681 | D | 0.688 | prob.neutral | None | None | None | None | I |
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.