Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26185 | 78778;78779;78780 | chr2:178567579;178567578;178567577 | chr2:179432306;179432305;179432304 |
| N2AB | 24544 | 73855;73856;73857 | chr2:178567579;178567578;178567577 | chr2:179432306;179432305;179432304 |
| N2A | 23617 | 71074;71075;71076 | chr2:178567579;178567578;178567577 | chr2:179432306;179432305;179432304 |
| N2B | 17120 | 51583;51584;51585 | chr2:178567579;178567578;178567577 | chr2:179432306;179432305;179432304 |
| Novex-1 | 17245 | 51958;51959;51960 | chr2:178567579;178567578;178567577 | chr2:179432306;179432305;179432304 |
| Novex-2 | 17312 | 52159;52160;52161 | chr2:178567579;178567578;178567577 | chr2:179432306;179432305;179432304 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs1474159938  |
-0.044 | 0.449 | N | 0.581 | 0.17 | 0.15556083564 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs1474159938 |
-0.044 | 0.449 | N | 0.581 | 0.17 | 0.15556083564 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs1474159938 |
-0.044 | 0.449 | N | 0.581 | 0.17 | 0.15556083564 | gnomAD-4.0.0 | 3.86422E-06 | None | None | None | None | N | None | 5.08302E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1455158405 |
-0.155 | 0.001 | N | 0.235 | 0.054 | 0.126345400529 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs1455158405 |
-0.155 | 0.001 | N | 0.235 | 0.054 | 0.126345400529 | 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 |
| K/R | rs1455158405 |
-0.155 | 0.001 | N | 0.235 | 0.054 | 0.126345400529 | gnomAD-4.0.0 | 2.02998E-06 | None | None | None | None | N | None | 3.49455E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6739 | likely_pathogenic | 0.5863 | pathogenic | -0.347 | Destabilizing | 0.236 | N | 0.427 | neutral | None | None | None | None | N |
| K/C | 0.7668 | likely_pathogenic | 0.7304 | pathogenic | -0.444 | Destabilizing | 0.962 | D | 0.706 | prob.delet. | None | None | None | None | N |
| K/D | 0.9376 | likely_pathogenic | 0.9039 | pathogenic | -0.491 | Destabilizing | 0.519 | D | 0.53 | neutral | None | None | None | None | N |
| K/E | 0.4656 | ambiguous | 0.3808 | ambiguous | -0.435 | Destabilizing | 0.104 | N | 0.401 | neutral | N | 0.452254938 | None | None | N |
| K/F | 0.9253 | likely_pathogenic | 0.8904 | pathogenic | -0.31 | Destabilizing | 0.892 | D | 0.693 | prob.delet. | None | None | None | None | N |
| K/G | 0.7948 | likely_pathogenic | 0.7457 | pathogenic | -0.664 | Destabilizing | 0.519 | D | 0.468 | neutral | None | None | None | None | N |
| K/H | 0.4862 | ambiguous | 0.4381 | ambiguous | -1.136 | Destabilizing | 0.892 | D | 0.521 | neutral | None | None | None | None | N |
| K/I | 0.5826 | likely_pathogenic | 0.5096 | ambiguous | 0.447 | Stabilizing | 0.687 | D | 0.761 | deleterious | None | None | None | None | N |
| K/L | 0.6349 | likely_pathogenic | 0.5675 | pathogenic | 0.447 | Stabilizing | 0.519 | D | 0.468 | neutral | None | None | None | None | N |
| K/M | 0.4691 | ambiguous | 0.3847 | ambiguous | 0.488 | Stabilizing | 0.95 | D | 0.519 | neutral | N | 0.47974417 | None | None | N |
| K/N | 0.8337 | likely_pathogenic | 0.766 | pathogenic | -0.379 | Destabilizing | 0.449 | N | 0.581 | neutral | N | 0.497683841 | None | None | N |
| K/P | 0.9883 | likely_pathogenic | 0.9845 | pathogenic | 0.213 | Stabilizing | 0.687 | D | 0.533 | neutral | None | None | None | None | N |
| K/Q | 0.2348 | likely_benign | 0.2036 | benign | -0.59 | Destabilizing | 0.29 | N | 0.616 | neutral | N | 0.476831675 | None | None | N |
| K/R | 0.0708 | likely_benign | 0.0723 | benign | -0.528 | Destabilizing | 0.001 | N | 0.235 | neutral | N | 0.46344109 | None | None | N |
| K/S | 0.7868 | likely_pathogenic | 0.7072 | pathogenic | -0.915 | Destabilizing | 0.236 | N | 0.588 | neutral | None | None | None | None | N |
| K/T | 0.4394 | ambiguous | 0.3566 | ambiguous | -0.68 | Destabilizing | 0.449 | N | 0.505 | neutral | N | 0.449105068 | None | None | N |
| K/V | 0.5141 | ambiguous | 0.4381 | ambiguous | 0.213 | Stabilizing | 0.519 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/W | 0.8784 | likely_pathogenic | 0.8476 | pathogenic | -0.227 | Destabilizing | 0.962 | D | 0.689 | prob.delet. | None | None | None | None | N |
| K/Y | 0.8553 | likely_pathogenic | 0.8155 | pathogenic | 0.111 | Stabilizing | 0.687 | D | 0.677 | 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.