Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2334 | 7225;7226;7227 | chr2:178774264;178774263;178774262 | chr2:179638991;179638990;179638989 |
| N2AB | 2334 | 7225;7226;7227 | chr2:178774264;178774263;178774262 | chr2:179638991;179638990;179638989 |
| N2A | 2334 | 7225;7226;7227 | chr2:178774264;178774263;178774262 | chr2:179638991;179638990;179638989 |
| N2B | 2288 | 7087;7088;7089 | chr2:178774264;178774263;178774262 | chr2:179638991;179638990;179638989 |
| Novex-1 | 2288 | 7087;7088;7089 | chr2:178774264;178774263;178774262 | chr2:179638991;179638990;179638989 |
| Novex-2 | 2288 | 7087;7088;7089 | chr2:178774264;178774263;178774262 | chr2:179638991;179638990;179638989 |
| Novex-3 | 2334 | 7225;7226;7227 | chr2:178774264;178774263;178774262 | chr2:179638991;179638990;179638989 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | D | 0.779 | 0.824 | 0.815461794708 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.781 | 0.83 | 0.846259549238 | gnomAD-4.0.0 | 1.59056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85665E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3719 | ambiguous | 0.3683 | ambiguous | -0.868 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.544800344 | None | None | N |
| G/C | 0.7463 | likely_pathogenic | 0.7762 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/D | 0.6984 | likely_pathogenic | 0.7451 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/E | 0.8312 | likely_pathogenic | 0.8488 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.728143201 | None | None | N |
| G/F | 0.973 | likely_pathogenic | 0.974 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/H | 0.9479 | likely_pathogenic | 0.9516 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/I | 0.9475 | likely_pathogenic | 0.956 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/K | 0.9251 | likely_pathogenic | 0.9237 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/L | 0.9288 | likely_pathogenic | 0.932 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/M | 0.9438 | likely_pathogenic | 0.9502 | pathogenic | -0.096 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/N | 0.821 | likely_pathogenic | 0.8485 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/P | 0.9961 | likely_pathogenic | 0.9971 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/Q | 0.8794 | likely_pathogenic | 0.8842 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/R | 0.8744 | likely_pathogenic | 0.8692 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.690833288 | None | None | N |
| G/S | 0.3713 | ambiguous | 0.3905 | ambiguous | -1.385 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/T | 0.7626 | likely_pathogenic | 0.8023 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/V | 0.8657 | likely_pathogenic | 0.8811 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.728143201 | None | None | N |
| G/W | 0.9545 | likely_pathogenic | 0.9591 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9524 | likely_pathogenic | 0.9567 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | 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.