Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28607 | 86044;86045;86046 | chr2:178560313;178560312;178560311 | chr2:179425040;179425039;179425038 |
| N2AB | 26966 | 81121;81122;81123 | chr2:178560313;178560312;178560311 | chr2:179425040;179425039;179425038 |
| N2A | 26039 | 78340;78341;78342 | chr2:178560313;178560312;178560311 | chr2:179425040;179425039;179425038 |
| N2B | 19542 | 58849;58850;58851 | chr2:178560313;178560312;178560311 | chr2:179425040;179425039;179425038 |
| Novex-1 | 19667 | 59224;59225;59226 | chr2:178560313;178560312;178560311 | chr2:179425040;179425039;179425038 |
| Novex-2 | 19734 | 59425;59426;59427 | chr2:178560313;178560312;178560311 | chr2:179425040;179425039;179425038 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.411 | 0.211 | 0.185906805712 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85829E-06 | 0 | 0 |
| D/H | rs879085011  |
None | 1.0 | N | 0.675 | 0.472 | None | 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 |
| D/H | rs879085011 |
None | 1.0 | N | 0.675 | 0.472 | None | gnomAD-4.0.0 | 6.57333E-06 | None | None | None | None | N | None | 2.41289E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6314 | likely_pathogenic | 0.5895 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.501106549 | None | None | N |
| D/C | 0.9049 | likely_pathogenic | 0.9027 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/E | 0.542 | ambiguous | 0.5238 | ambiguous | -0.361 | Destabilizing | 1.0 | D | 0.411 | neutral | N | 0.465569824 | None | None | N |
| D/F | 0.902 | likely_pathogenic | 0.891 | pathogenic | 0.683 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| D/G | 0.6177 | likely_pathogenic | 0.5667 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.466266676 | None | None | N |
| D/H | 0.7553 | likely_pathogenic | 0.7186 | pathogenic | 1.087 | Stabilizing | 1.0 | D | 0.675 | neutral | N | 0.480256328 | None | None | N |
| D/I | 0.8707 | likely_pathogenic | 0.8407 | pathogenic | 0.885 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/K | 0.8983 | likely_pathogenic | 0.8786 | pathogenic | 0.41 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/L | 0.809 | likely_pathogenic | 0.7774 | pathogenic | 0.885 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/M | 0.9334 | likely_pathogenic | 0.9264 | pathogenic | 0.607 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| D/N | 0.4225 | ambiguous | 0.3631 | ambiguous | -0.338 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.473708961 | None | None | N |
| D/P | 0.9513 | likely_pathogenic | 0.9466 | pathogenic | 0.678 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/Q | 0.8272 | likely_pathogenic | 0.8144 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/R | 0.8708 | likely_pathogenic | 0.8528 | pathogenic | 0.784 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/S | 0.426 | ambiguous | 0.3791 | ambiguous | -0.434 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| D/T | 0.76 | likely_pathogenic | 0.7119 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| D/V | 0.7378 | likely_pathogenic | 0.6905 | pathogenic | 0.678 | Stabilizing | 1.0 | D | 0.772 | deleterious | N | 0.508091237 | None | None | N |
| D/W | 0.9742 | likely_pathogenic | 0.9734 | pathogenic | 0.821 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5889 | likely_pathogenic | 0.5523 | ambiguous | 0.957 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.486332714 | 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.