Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2128 | 6607;6608;6609 | chr2:178775482;178775481;178775480 | chr2:179640209;179640208;179640207 |
| N2AB | 2128 | 6607;6608;6609 | chr2:178775482;178775481;178775480 | chr2:179640209;179640208;179640207 |
| N2A | 2128 | 6607;6608;6609 | chr2:178775482;178775481;178775480 | chr2:179640209;179640208;179640207 |
| N2B | 2082 | 6469;6470;6471 | chr2:178775482;178775481;178775480 | chr2:179640209;179640208;179640207 |
| Novex-1 | 2082 | 6469;6470;6471 | chr2:178775482;178775481;178775480 | chr2:179640209;179640208;179640207 |
| Novex-2 | 2082 | 6469;6470;6471 | chr2:178775482;178775481;178775480 | chr2:179640209;179640208;179640207 |
| Novex-3 | 2128 | 6607;6608;6609 | chr2:178775482;178775481;178775480 | chr2:179640209;179640208;179640207 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs866674875  |
None | 1.0 | N | 0.82 | 0.643 | 0.719881111381 | gnomAD-4.0.0 | 1.59072E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85656E-06 | 0 | 0 |
| W/S | rs751340835 |
-1.865 | 1.0 | N | 0.813 | 0.583 | 0.838322501766 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 3.26691E-04 |
| W/S | rs751340835 |
-1.865 | 1.0 | N | 0.813 | 0.583 | 0.838322501766 | gnomAD-4.0.0 | 4.77213E-06 | None | None | None | None | I | None | 0 | 2.28749E-05 | None | 0 | 0 | None | 0 | 4.8216E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9723 | likely_pathogenic | 0.9748 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| W/C | 0.9863 | likely_pathogenic | 0.9866 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.50695778 | None | None | I |
| W/D | 0.9947 | likely_pathogenic | 0.9954 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| W/E | 0.9938 | likely_pathogenic | 0.9946 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| W/F | 0.5057 | ambiguous | 0.528 | ambiguous | -1.499 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| W/G | 0.9419 | likely_pathogenic | 0.9513 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.465639523 | None | None | I |
| W/H | 0.9608 | likely_pathogenic | 0.9625 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| W/I | 0.9708 | likely_pathogenic | 0.9718 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| W/K | 0.9922 | likely_pathogenic | 0.9925 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| W/L | 0.8942 | likely_pathogenic | 0.8979 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.445398271 | None | None | I |
| W/M | 0.9656 | likely_pathogenic | 0.9674 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| W/N | 0.9882 | likely_pathogenic | 0.9896 | pathogenic | -1.536 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| W/P | 0.9941 | likely_pathogenic | 0.9947 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| W/Q | 0.9887 | likely_pathogenic | 0.9901 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| W/R | 0.9843 | likely_pathogenic | 0.9856 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.448850884 | None | None | I |
| W/S | 0.9349 | likely_pathogenic | 0.9416 | pathogenic | -1.867 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.402598147 | None | None | I |
| W/T | 0.9676 | likely_pathogenic | 0.9714 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| W/V | 0.9637 | likely_pathogenic | 0.966 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| W/Y | 0.7687 | likely_pathogenic | 0.7732 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | 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.