Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16205 | 48838;48839;48840 | chr2:178615332;178615331;178615330 | chr2:179480059;179480058;179480057 |
| N2AB | 14564 | 43915;43916;43917 | chr2:178615332;178615331;178615330 | chr2:179480059;179480058;179480057 |
| N2A | 13637 | 41134;41135;41136 | chr2:178615332;178615331;178615330 | chr2:179480059;179480058;179480057 |
| N2B | 7140 | 21643;21644;21645 | chr2:178615332;178615331;178615330 | chr2:179480059;179480058;179480057 |
| Novex-1 | 7265 | 22018;22019;22020 | chr2:178615332;178615331;178615330 | chr2:179480059;179480058;179480057 |
| Novex-2 | 7332 | 22219;22220;22221 | chr2:178615332;178615331;178615330 | chr2:179480059;179480058;179480057 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | D | 0.853 | 0.36 | 0.779278775056 | gnomAD-4.0.0 | 6.84768E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52653E-05 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs2057138196  |
None | 1.0 | D | 0.853 | 0.363 | 0.714907588512 | gnomAD-4.0.0 | 6.84768E-07 | None | None | None | None | N | None | 2.99581E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.3987 | ambiguous | 0.4149 | ambiguous | -1.138 | Destabilizing | 0.998 | D | 0.543 | neutral | None | None | None | None | N |
| C/D | 0.9108 | likely_pathogenic | 0.9078 | pathogenic | 0.275 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| C/E | 0.949 | likely_pathogenic | 0.9435 | pathogenic | 0.316 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| C/F | 0.4547 | ambiguous | 0.4199 | ambiguous | -0.768 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.560373316 | None | None | N |
| C/G | 0.4021 | ambiguous | 0.3864 | ambiguous | -1.381 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.592365571 | None | None | N |
| C/H | 0.8755 | likely_pathogenic | 0.8681 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| C/I | 0.5697 | likely_pathogenic | 0.5554 | ambiguous | -0.555 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| C/K | 0.974 | likely_pathogenic | 0.9703 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| C/L | 0.5911 | likely_pathogenic | 0.5559 | ambiguous | -0.555 | Destabilizing | 0.999 | D | 0.547 | neutral | None | None | None | None | N |
| C/M | 0.7547 | likely_pathogenic | 0.7349 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| C/N | 0.8153 | likely_pathogenic | 0.8284 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| C/P | 0.9477 | likely_pathogenic | 0.938 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| C/Q | 0.9138 | likely_pathogenic | 0.9017 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| C/R | 0.8903 | likely_pathogenic | 0.8667 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.696679716 | None | None | N |
| C/S | 0.4116 | ambiguous | 0.4321 | ambiguous | -0.718 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.563615257 | None | None | N |
| C/T | 0.5026 | ambiguous | 0.5219 | ambiguous | -0.509 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| C/V | 0.3903 | ambiguous | 0.3869 | ambiguous | -0.723 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| C/W | 0.8434 | likely_pathogenic | 0.811 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.702454413 | None | None | N |
| C/Y | 0.6957 | likely_pathogenic | 0.6667 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.582516353 | 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.