Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4912 | 14959;14960;14961 | chr2:178735712;178735711;178735710 | chr2:179600439;179600438;179600437 |
| N2AB | 4595 | 14008;14009;14010 | chr2:178735712;178735711;178735710 | chr2:179600439;179600438;179600437 |
| N2A | 3668 | 11227;11228;11229 | chr2:178735712;178735711;178735710 | chr2:179600439;179600438;179600437 |
| 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 | None | None | 0.946 | N | 0.613 | 0.424 | 0.459463830659 | gnomAD-4.0.0 | 1.36848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79893E-06 | 0 | 0 |
| D/G | rs2081324623  |
None | 0.716 | N | 0.525 | 0.412 | None | gnomAD-4.0.0 | 2.05271E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6984E-06 | 0 | 0 |
| D/V | rs2081324623 |
None | 0.973 | N | 0.717 | 0.583 | 0.644895047373 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs2081324623 |
None | 0.973 | N | 0.717 | 0.583 | 0.644895047373 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | N | None | 0 | 6.5505E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1177138515 |
None | 0.998 | N | 0.713 | 0.37 | 0.659656470797 | gnomAD-4.0.0 | 4.78961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29622E-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 | 0.2576 | likely_benign | 0.3338 | benign | -0.562 | Destabilizing | 0.946 | D | 0.613 | neutral | N | 0.421117153 | None | None | N |
| D/C | 0.7762 | likely_pathogenic | 0.8339 | pathogenic | -0.433 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/E | 0.3428 | ambiguous | 0.4558 | ambiguous | -0.716 | Destabilizing | 0.834 | D | 0.373 | neutral | N | 0.421024258 | None | None | N |
| D/F | 0.6995 | likely_pathogenic | 0.7933 | pathogenic | -0.234 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/G | 0.2502 | likely_benign | 0.3126 | benign | -0.875 | Destabilizing | 0.716 | D | 0.525 | neutral | N | 0.475801443 | None | None | N |
| D/H | 0.4361 | ambiguous | 0.534 | ambiguous | -0.521 | Destabilizing | 0.985 | D | 0.679 | prob.neutral | N | 0.480442911 | None | None | N |
| D/I | 0.5395 | ambiguous | 0.6573 | pathogenic | 0.256 | Stabilizing | 0.979 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/K | 0.6033 | likely_pathogenic | 0.7229 | pathogenic | -0.865 | Destabilizing | 0.921 | D | 0.645 | neutral | None | None | None | None | N |
| D/L | 0.5279 | ambiguous | 0.634 | pathogenic | 0.256 | Stabilizing | 0.959 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/M | 0.7284 | likely_pathogenic | 0.8022 | pathogenic | 0.56 | Stabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/N | 0.1065 | likely_benign | 0.1237 | benign | -1.071 | Destabilizing | 0.016 | N | 0.223 | neutral | N | 0.485490454 | None | None | N |
| D/P | 0.8817 | likely_pathogenic | 0.9211 | pathogenic | 0.007 | Stabilizing | 0.979 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/Q | 0.5511 | ambiguous | 0.671 | pathogenic | -0.937 | Destabilizing | 0.959 | D | 0.631 | neutral | None | None | None | None | N |
| D/R | 0.5875 | likely_pathogenic | 0.7101 | pathogenic | -0.582 | Destabilizing | 0.959 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/S | 0.1508 | likely_benign | 0.1806 | benign | -1.304 | Destabilizing | 0.769 | D | 0.507 | neutral | None | None | None | None | N |
| D/T | 0.3212 | likely_benign | 0.3916 | ambiguous | -1.071 | Destabilizing | 0.921 | D | 0.637 | neutral | None | None | None | None | N |
| D/V | 0.3581 | ambiguous | 0.4673 | ambiguous | 0.007 | Stabilizing | 0.973 | D | 0.717 | prob.delet. | N | 0.397572079 | None | None | N |
| D/W | 0.9085 | likely_pathogenic | 0.9402 | pathogenic | -0.133 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/Y | 0.3458 | ambiguous | 0.4476 | ambiguous | -0.074 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | N | 0.496292013 | 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.