Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15584 | 46975;46976;46977 | chr2:178618800;178618799;178618798 | chr2:179483527;179483526;179483525 |
| N2AB | 13943 | 42052;42053;42054 | chr2:178618800;178618799;178618798 | chr2:179483527;179483526;179483525 |
| N2A | 13016 | 39271;39272;39273 | chr2:178618800;178618799;178618798 | chr2:179483527;179483526;179483525 |
| N2B | 6519 | 19780;19781;19782 | chr2:178618800;178618799;178618798 | chr2:179483527;179483526;179483525 |
| Novex-1 | 6644 | 20155;20156;20157 | chr2:178618800;178618799;178618798 | chr2:179483527;179483526;179483525 |
| Novex-2 | 6711 | 20356;20357;20358 | chr2:178618800;178618799;178618798 | chr2:179483527;179483526;179483525 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1170371957  |
-0.08 | 1.0 | N | 0.779 | 0.451 | 0.456738291233 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| P/L | rs1170371957 |
-0.08 | 1.0 | N | 0.779 | 0.451 | 0.456738291233 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1170371957 |
-0.08 | 1.0 | N | 0.779 | 0.451 | 0.456738291233 | gnomAD-4.0.0 | 3.72432E-06 | None | None | None | None | N | None | 1.33761E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24198E-06 | 0 | 0 |
| P/S | rs751925383 |
-0.944 | 1.0 | N | 0.747 | 0.37 | 0.154104182512 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 1.24388E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs751925383 |
-0.944 | 1.0 | N | 0.747 | 0.37 | 0.154104182512 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs751925383 |
-0.944 | 1.0 | N | 0.747 | 0.37 | 0.154104182512 | gnomAD-4.0.0 | 1.31686E-05 | None | None | None | None | N | None | 4.83232E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0962 | likely_benign | 0.1086 | benign | -0.88 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.443984574 | None | None | N |
| P/C | 0.606 | likely_pathogenic | 0.7035 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/D | 0.5057 | ambiguous | 0.5446 | ambiguous | -0.542 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| P/E | 0.3482 | ambiguous | 0.3867 | ambiguous | -0.587 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/F | 0.5568 | ambiguous | 0.6403 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| P/G | 0.3294 | likely_benign | 0.3613 | ambiguous | -1.12 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/H | 0.3059 | likely_benign | 0.3529 | ambiguous | -0.538 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.446399427 | None | None | N |
| P/I | 0.376 | ambiguous | 0.445 | ambiguous | -0.357 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/K | 0.4255 | ambiguous | 0.4796 | ambiguous | -0.834 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| P/L | 0.1774 | likely_benign | 0.2179 | benign | -0.357 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.444949896 | None | None | N |
| P/M | 0.3441 | ambiguous | 0.4089 | ambiguous | -0.423 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/N | 0.3482 | ambiguous | 0.3745 | ambiguous | -0.635 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/Q | 0.2211 | likely_benign | 0.2496 | benign | -0.814 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/R | 0.319 | likely_benign | 0.3668 | ambiguous | -0.297 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.442793593 | None | None | N |
| P/S | 0.1517 | likely_benign | 0.1687 | benign | -1.102 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.444107222 | None | None | N |
| P/T | 0.1379 | likely_benign | 0.1556 | benign | -1.037 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.443331501 | None | None | N |
| P/V | 0.2545 | likely_benign | 0.3025 | benign | -0.495 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/W | 0.7677 | likely_pathogenic | 0.825 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/Y | 0.5067 | ambiguous | 0.5812 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.757 | deleterious | 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.