Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29891 | 89896;89897;89898 | chr2:178553229;178553228;178553227 | chr2:179417956;179417955;179417954 |
| N2AB | 28250 | 84973;84974;84975 | chr2:178553229;178553228;178553227 | chr2:179417956;179417955;179417954 |
| N2A | 27323 | 82192;82193;82194 | chr2:178553229;178553228;178553227 | chr2:179417956;179417955;179417954 |
| N2B | 20826 | 62701;62702;62703 | chr2:178553229;178553228;178553227 | chr2:179417956;179417955;179417954 |
| Novex-1 | 20951 | 63076;63077;63078 | chr2:178553229;178553228;178553227 | chr2:179417956;179417955;179417954 |
| Novex-2 | 21018 | 63277;63278;63279 | chr2:178553229;178553228;178553227 | chr2:179417956;179417955;179417954 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs758970991  |
-0.252 | 1.0 | N | 0.658 | 0.456 | 0.547893116657 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| T/I | rs758970991 |
-0.252 | 1.0 | N | 0.658 | 0.456 | 0.547893116657 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 0 | 0 |
| T/N | None | None | 1.0 | N | 0.683 | 0.384 | 0.488196290542 | gnomAD-4.0.0 | 6.84313E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 0 | 0 |
| T/S | rs758970991 |
-0.194 | 0.999 | N | 0.461 | 0.171 | 0.388495093706 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2023 | likely_benign | 0.1808 | benign | -0.492 | Destabilizing | 0.999 | D | 0.467 | neutral | N | 0.488365809 | None | None | N |
| T/C | 0.6548 | likely_pathogenic | 0.6264 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.616 | neutral | None | None | None | None | N |
| T/D | 0.4364 | ambiguous | 0.4019 | ambiguous | 0.429 | Stabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| T/E | 0.548 | ambiguous | 0.5135 | ambiguous | 0.349 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| T/F | 0.6405 | likely_pathogenic | 0.5982 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| T/G | 0.2878 | likely_benign | 0.2702 | benign | -0.598 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| T/H | 0.3938 | ambiguous | 0.3817 | ambiguous | -0.976 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| T/I | 0.5739 | likely_pathogenic | 0.544 | ambiguous | -0.333 | Destabilizing | 1.0 | D | 0.658 | neutral | N | 0.486012406 | None | None | N |
| T/K | 0.29 | likely_benign | 0.2805 | benign | -0.228 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| T/L | 0.281 | likely_benign | 0.2514 | benign | -0.333 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| T/M | 0.1954 | likely_benign | 0.1777 | benign | -0.037 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| T/N | 0.1487 | likely_benign | 0.1387 | benign | -0.009 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.517839376 | None | None | N |
| T/P | 0.7128 | likely_pathogenic | 0.6511 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.493089524 | None | None | N |
| T/Q | 0.371 | ambiguous | 0.3707 | ambiguous | -0.237 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/R | 0.2579 | likely_benign | 0.244 | benign | -0.039 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| T/S | 0.1292 | likely_benign | 0.1175 | benign | -0.263 | Destabilizing | 0.999 | D | 0.461 | neutral | N | 0.472144371 | None | None | N |
| T/V | 0.4234 | ambiguous | 0.3956 | ambiguous | -0.359 | Destabilizing | 0.999 | D | 0.537 | neutral | None | None | None | None | N |
| T/W | 0.8361 | likely_pathogenic | 0.8129 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| T/Y | 0.5912 | likely_pathogenic | 0.5578 | ambiguous | -0.767 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | 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.