Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27901 | 83926;83927;83928 | chr2:178562431;178562430;178562429 | chr2:179427158;179427157;179427156 |
| N2AB | 26260 | 79003;79004;79005 | chr2:178562431;178562430;178562429 | chr2:179427158;179427157;179427156 |
| N2A | 25333 | 76222;76223;76224 | chr2:178562431;178562430;178562429 | chr2:179427158;179427157;179427156 |
| N2B | 18836 | 56731;56732;56733 | chr2:178562431;178562430;178562429 | chr2:179427158;179427157;179427156 |
| Novex-1 | 18961 | 57106;57107;57108 | chr2:178562431;178562430;178562429 | chr2:179427158;179427157;179427156 |
| Novex-2 | 19028 | 57307;57308;57309 | chr2:178562431;178562430;178562429 | chr2:179427158;179427157;179427156 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs1213668356  |
None | 1.0 | D | 0.745 | 0.604 | 0.61617715924 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs1213668356 |
None | 1.0 | D | 0.745 | 0.604 | 0.61617715924 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1048498149 |
None | 1.0 | N | 0.765 | 0.361 | 0.361160317528 | gnomAD-4.0.0 | 6.84468E-07 | None | None | None | None | N | None | 2.98972E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6923 | likely_pathogenic | 0.7413 | pathogenic | -1.878 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.538976866 | None | None | N |
| E/C | 0.9753 | likely_pathogenic | 0.9823 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/D | 0.4614 | ambiguous | 0.5398 | ambiguous | -1.572 | Destabilizing | 0.998 | D | 0.656 | neutral | N | 0.491171787 | None | None | N |
| E/F | 0.9749 | likely_pathogenic | 0.9851 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| E/G | 0.7918 | likely_pathogenic | 0.8265 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.540751292 | None | None | N |
| E/H | 0.9113 | likely_pathogenic | 0.9375 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/I | 0.9368 | likely_pathogenic | 0.9588 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| E/K | 0.8577 | likely_pathogenic | 0.8914 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.512857214 | None | None | N |
| E/L | 0.9173 | likely_pathogenic | 0.9424 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| E/M | 0.8896 | likely_pathogenic | 0.9203 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| E/N | 0.8535 | likely_pathogenic | 0.9003 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| E/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/Q | 0.3976 | ambiguous | 0.4467 | ambiguous | -1.691 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.474331299 | None | None | N |
| E/R | 0.9074 | likely_pathogenic | 0.9247 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/S | 0.6542 | likely_pathogenic | 0.7114 | pathogenic | -2.657 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/T | 0.8362 | likely_pathogenic | 0.8736 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/V | 0.8451 | likely_pathogenic | 0.8912 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.519164317 | None | None | N |
| E/W | 0.9886 | likely_pathogenic | 0.9927 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| E/Y | 0.9584 | likely_pathogenic | 0.9739 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.802 | deleterious | 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.