Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34140 | 102643;102644;102645 | chr2:178534197;178534196;178534195 | chr2:179398924;179398923;179398922 |
| N2AB | 32499 | 97720;97721;97722 | chr2:178534197;178534196;178534195 | chr2:179398924;179398923;179398922 |
| N2A | 31572 | 94939;94940;94941 | chr2:178534197;178534196;178534195 | chr2:179398924;179398923;179398922 |
| N2B | 25075 | 75448;75449;75450 | chr2:178534197;178534196;178534195 | chr2:179398924;179398923;179398922 |
| Novex-1 | 25200 | 75823;75824;75825 | chr2:178534197;178534196;178534195 | chr2:179398924;179398923;179398922 |
| Novex-2 | 25267 | 76024;76025;76026 | chr2:178534197;178534196;178534195 | chr2:179398924;179398923;179398922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.643 | 0.378 | 0.294206760003 | gnomAD-4.0.0 | 1.59095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85765E-06 | 0 | 0 |
| G/E | None | None | 1.0 | N | 0.687 | 0.502 | 0.58541340546 | gnomAD-4.0.0 | 1.59095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| G/R | rs1294610003  |
None | 1.0 | N | 0.661 | 0.483 | 0.685676517872 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs1294610003 |
None | 1.0 | N | 0.661 | 0.483 | 0.685676517872 | gnomAD-4.0.0 | 5.57695E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62805E-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 | 0.3199 | likely_benign | 0.3683 | ambiguous | -0.688 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.484894664 | None | None | N |
| G/C | 0.5616 | ambiguous | 0.6415 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/D | 0.8544 | likely_pathogenic | 0.6556 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/E | 0.8332 | likely_pathogenic | 0.6154 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.521892827 | None | None | N |
| G/F | 0.9436 | likely_pathogenic | 0.9117 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/H | 0.9093 | likely_pathogenic | 0.7992 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| G/I | 0.7905 | likely_pathogenic | 0.8124 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/K | 0.9116 | likely_pathogenic | 0.7832 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/L | 0.8759 | likely_pathogenic | 0.8388 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/M | 0.8942 | likely_pathogenic | 0.8774 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/N | 0.8547 | likely_pathogenic | 0.718 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/P | 0.9788 | likely_pathogenic | 0.974 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/Q | 0.8545 | likely_pathogenic | 0.6893 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/R | 0.8179 | likely_pathogenic | 0.6352 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.5040005 | None | None | N |
| G/S | 0.2713 | likely_benign | 0.223 | benign | -0.906 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/T | 0.5587 | ambiguous | 0.5108 | ambiguous | -0.967 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/V | 0.6484 | likely_pathogenic | 0.6916 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.522759619 | None | None | N |
| G/W | 0.9102 | likely_pathogenic | 0.8536 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.648 | neutral | D | 0.523973127 | None | None | N |
| G/Y | 0.9242 | likely_pathogenic | 0.8732 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.657 | 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.