Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6828 | 20707;20708;20709 | chr2:178725840;178725839;178725838 | chr2:179590567;179590566;179590565 |
| N2AB | 6511 | 19756;19757;19758 | chr2:178725840;178725839;178725838 | chr2:179590567;179590566;179590565 |
| N2A | 5584 | 16975;16976;16977 | chr2:178725840;178725839;178725838 | chr2:179590567;179590566;179590565 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | None | None | 0.127 | N | 0.539 | 0.211 | 0.604712644391 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-06 | 0 | 0 |
| I/V | rs1432785096  |
-0.688 | None | N | 0.141 | 0.086 | 0.383760037723 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| I/V | rs1432785096 |
-0.688 | None | N | 0.141 | 0.086 | 0.383760037723 | 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 |
| I/V | rs1432785096 |
-0.688 | None | N | 0.141 | 0.086 | 0.383760037723 | gnomAD-4.0.0 | 3.0995E-06 | None | None | None | None | N | None | 2.67073E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54344E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1354 | likely_benign | 0.1159 | benign | -1.513 | Destabilizing | 0.017 | N | 0.195 | neutral | None | None | None | None | N |
| I/C | 0.623 | likely_pathogenic | 0.5814 | pathogenic | -1.147 | Destabilizing | 0.985 | D | 0.592 | neutral | None | None | None | None | N |
| I/D | 0.7032 | likely_pathogenic | 0.6765 | pathogenic | -0.438 | Destabilizing | 0.757 | D | 0.647 | neutral | None | None | None | None | N |
| I/E | 0.5506 | ambiguous | 0.5062 | ambiguous | -0.427 | Destabilizing | 0.697 | D | 0.627 | neutral | None | None | None | None | N |
| I/F | 0.1785 | likely_benign | 0.1629 | benign | -1.062 | Destabilizing | 0.767 | D | 0.569 | neutral | N | 0.479513061 | None | None | N |
| I/G | 0.5276 | ambiguous | 0.4583 | ambiguous | -1.832 | Destabilizing | 0.61 | D | 0.556 | neutral | None | None | None | None | N |
| I/H | 0.5552 | ambiguous | 0.5251 | ambiguous | -0.987 | Destabilizing | 0.991 | D | 0.593 | neutral | None | None | None | None | N |
| I/K | 0.3953 | ambiguous | 0.3627 | ambiguous | -0.91 | Destabilizing | 0.084 | N | 0.627 | neutral | None | None | None | None | N |
| I/L | 0.1386 | likely_benign | 0.1257 | benign | -0.717 | Destabilizing | 0.002 | N | 0.28 | neutral | N | 0.473509808 | None | None | N |
| I/M | 0.1068 | likely_benign | 0.0938 | benign | -0.632 | Destabilizing | 0.022 | N | 0.309 | neutral | N | 0.482262577 | None | None | N |
| I/N | 0.3276 | likely_benign | 0.2941 | benign | -0.776 | Destabilizing | 0.892 | D | 0.645 | neutral | N | 0.485822958 | None | None | N |
| I/P | 0.8193 | likely_pathogenic | 0.7867 | pathogenic | -0.95 | Destabilizing | 0.957 | D | 0.648 | neutral | None | None | None | None | N |
| I/Q | 0.4503 | ambiguous | 0.3998 | ambiguous | -0.906 | Destabilizing | 0.902 | D | 0.638 | neutral | None | None | None | None | N |
| I/R | 0.2836 | likely_benign | 0.2639 | benign | -0.4 | Destabilizing | 0.813 | D | 0.648 | neutral | None | None | None | None | N |
| I/S | 0.1943 | likely_benign | 0.1617 | benign | -1.508 | Destabilizing | 0.084 | N | 0.324 | neutral | N | 0.408071463 | None | None | N |
| I/T | 0.0687 | likely_benign | 0.0638 | benign | -1.368 | Destabilizing | 0.127 | N | 0.539 | neutral | N | 0.411229198 | None | None | N |
| I/V | 0.0638 | likely_benign | 0.0635 | benign | -0.95 | Destabilizing | None | N | 0.141 | neutral | N | 0.415885657 | None | None | N |
| I/W | 0.7812 | likely_pathogenic | 0.7616 | pathogenic | -1.082 | Destabilizing | 0.997 | D | 0.629 | neutral | None | None | None | None | N |
| I/Y | 0.5837 | likely_pathogenic | 0.5453 | ambiguous | -0.849 | Destabilizing | 0.509 | D | 0.621 | 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.