Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2382 | 7369;7370;7371 | chr2:178774024;178774023;178774022 | chr2:179638751;179638750;179638749 |
| N2AB | 2382 | 7369;7370;7371 | chr2:178774024;178774023;178774022 | chr2:179638751;179638750;179638749 |
| N2A | 2382 | 7369;7370;7371 | chr2:178774024;178774023;178774022 | chr2:179638751;179638750;179638749 |
| N2B | 2336 | 7231;7232;7233 | chr2:178774024;178774023;178774022 | chr2:179638751;179638750;179638749 |
| Novex-1 | 2336 | 7231;7232;7233 | chr2:178774024;178774023;178774022 | chr2:179638751;179638750;179638749 |
| Novex-2 | 2336 | 7231;7232;7233 | chr2:178774024;178774023;178774022 | chr2:179638751;179638750;179638749 |
| Novex-3 | 2382 | 7369;7370;7371 | chr2:178774024;178774023;178774022 | chr2:179638751;179638750;179638749 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs773495315  |
-0.523 | 0.999 | D | 0.625 | 0.715 | None | gnomAD-2.1.1 | 8.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 7.96E-05 | 1.47506E-04 | 2.77469E-04 |
| E/G | rs773495315 |
-0.523 | 0.999 | D | 0.625 | 0.715 | None | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.76419E-04 | 0 | 4.78011E-04 |
| E/G | rs773495315 |
-0.523 | 0.999 | D | 0.625 | 0.715 | None | gnomAD-4.0.0 | 2.47837E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56157E-05 | 0 | 3.13563E-05 | 0 | 3.20072E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2796 | likely_benign | 0.3163 | benign | -0.343 | Destabilizing | 0.996 | D | 0.631 | neutral | D | 0.548179138 | None | None | N |
| E/C | 0.955 | likely_pathogenic | 0.9681 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| E/D | 0.1574 | likely_benign | 0.165 | benign | -0.37 | Destabilizing | 0.998 | D | 0.485 | neutral | D | 0.54927348 | None | None | N |
| E/F | 0.9444 | likely_pathogenic | 0.9574 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| E/G | 0.3034 | likely_benign | 0.3562 | ambiguous | -0.542 | Destabilizing | 0.999 | D | 0.625 | neutral | D | 0.545164033 | None | None | N |
| E/H | 0.7841 | likely_pathogenic | 0.8255 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| E/I | 0.7814 | likely_pathogenic | 0.8197 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/K | 0.534 | ambiguous | 0.6049 | pathogenic | 0.349 | Stabilizing | 0.998 | D | 0.61 | neutral | D | 0.577719485 | None | None | N |
| E/L | 0.7432 | likely_pathogenic | 0.788 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| E/M | 0.8327 | likely_pathogenic | 0.8683 | pathogenic | 0.139 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| E/N | 0.5086 | ambiguous | 0.553 | ambiguous | -0.074 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| E/P | 0.4023 | ambiguous | 0.4433 | ambiguous | 0.005 | Stabilizing | 0.504 | D | 0.431 | neutral | None | None | None | None | N |
| E/Q | 0.317 | likely_benign | 0.358 | ambiguous | -0.025 | Destabilizing | 1.0 | D | 0.625 | neutral | D | 0.650841797 | None | None | N |
| E/R | 0.655 | likely_pathogenic | 0.7144 | pathogenic | 0.6 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| E/S | 0.3874 | ambiguous | 0.4354 | ambiguous | -0.209 | Destabilizing | 0.998 | D | 0.651 | neutral | None | None | None | None | N |
| E/T | 0.5511 | ambiguous | 0.6043 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| E/V | 0.5609 | ambiguous | 0.615 | pathogenic | 0.005 | Stabilizing | 0.999 | D | 0.662 | neutral | D | 0.611231547 | None | None | N |
| E/W | 0.981 | likely_pathogenic | 0.9863 | pathogenic | 0.03 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| E/Y | 0.8912 | likely_pathogenic | 0.9149 | pathogenic | 0.109 | Stabilizing | 1.0 | D | 0.705 | prob.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.