Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30113 | 90562;90563;90564 | chr2:178552563;178552562;178552561 | chr2:179417290;179417289;179417288 |
| N2AB | 28472 | 85639;85640;85641 | chr2:178552563;178552562;178552561 | chr2:179417290;179417289;179417288 |
| N2A | 27545 | 82858;82859;82860 | chr2:178552563;178552562;178552561 | chr2:179417290;179417289;179417288 |
| N2B | 21048 | 63367;63368;63369 | chr2:178552563;178552562;178552561 | chr2:179417290;179417289;179417288 |
| Novex-1 | 21173 | 63742;63743;63744 | chr2:178552563;178552562;178552561 | chr2:179417290;179417289;179417288 |
| Novex-2 | 21240 | 63943;63944;63945 | chr2:178552563;178552562;178552561 | chr2:179417290;179417289;179417288 |
| 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/G | rs1699857670  |
None | 1.0 | N | 0.727 | 0.392 | 0.288727942641 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1699857670 |
None | 1.0 | N | 0.727 | 0.392 | 0.288727942641 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | I | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1186226559 |
None | 1.0 | N | 0.695 | 0.317 | 0.294918367191 | 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 | rs1186226559 |
None | 1.0 | N | 0.695 | 0.317 | 0.294918367191 | gnomAD-4.0.0 | 4.05979E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.81978E-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 | 0.1823 | likely_benign | 0.1561 | benign | -0.381 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.477648113 | None | None | I |
| D/C | 0.6816 | likely_pathogenic | 0.6386 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| D/E | 0.1346 | likely_benign | 0.1234 | benign | -0.344 | Destabilizing | 1.0 | D | 0.508 | neutral | N | 0.423698985 | None | None | I |
| D/F | 0.584 | likely_pathogenic | 0.5491 | ambiguous | -0.103 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| D/G | 0.2589 | likely_benign | 0.2177 | benign | -0.601 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.482263655 | None | None | I |
| D/H | 0.3492 | ambiguous | 0.2883 | benign | 0.171 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.469199056 | None | None | I |
| D/I | 0.3339 | likely_benign | 0.3048 | benign | 0.16 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| D/K | 0.3519 | ambiguous | 0.3131 | benign | 0.214 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| D/L | 0.3291 | likely_benign | 0.2973 | benign | 0.16 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| D/M | 0.5515 | ambiguous | 0.5178 | ambiguous | 0.222 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| D/N | 0.1206 | likely_benign | 0.109 | benign | -0.241 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.468185098 | None | None | I |
| D/P | 0.5519 | ambiguous | 0.5188 | ambiguous | 0.001 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| D/Q | 0.3335 | likely_benign | 0.2875 | benign | -0.176 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| D/R | 0.4524 | ambiguous | 0.4021 | ambiguous | 0.496 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| D/S | 0.1434 | likely_benign | 0.1279 | benign | -0.343 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| D/T | 0.2554 | likely_benign | 0.2287 | benign | -0.159 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| D/V | 0.1988 | likely_benign | 0.18 | benign | 0.001 | Stabilizing | 1.0 | D | 0.775 | deleterious | N | 0.465120452 | None | None | I |
| D/W | 0.9075 | likely_pathogenic | 0.8878 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| D/Y | 0.2646 | likely_benign | 0.2434 | benign | 0.156 | Stabilizing | 1.0 | D | 0.757 | deleterious | N | 0.489518584 | 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.