Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3134 | 9625;9626;9627 | chr2:178767830;178767829;178767828 | chr2:179632557;179632556;179632555 |
| N2AB | 3134 | 9625;9626;9627 | chr2:178767830;178767829;178767828 | chr2:179632557;179632556;179632555 |
| N2A | 3134 | 9625;9626;9627 | chr2:178767830;178767829;178767828 | chr2:179632557;179632556;179632555 |
| N2B | 3088 | 9487;9488;9489 | chr2:178767830;178767829;178767828 | chr2:179632557;179632556;179632555 |
| Novex-1 | 3088 | 9487;9488;9489 | chr2:178767830;178767829;178767828 | chr2:179632557;179632556;179632555 |
| Novex-2 | 3088 | 9487;9488;9489 | chr2:178767830;178767829;178767828 | chr2:179632557;179632556;179632555 |
| Novex-3 | 3134 | 9625;9626;9627 | chr2:178767830;178767829;178767828 | chr2:179632557;179632556;179632555 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | None | None | 0.994 | N | 0.713 | 0.377 | 0.672435393608 | gnomAD-4.0.0 | 1.36814E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79859E-06 | 0 | 0 |
| N/K | rs587780987  |
None | 0.984 | N | 0.449 | 0.293 | 0.269111216191 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79859E-06 | 0 | 0 |
| N/S | rs777759635 |
-0.361 | 0.287 | N | 0.105 | 0.105 | 0.132336055621 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 5.78E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs777759635 |
-0.361 | 0.287 | N | 0.105 | 0.105 | 0.132336055621 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs777759635 |
-0.361 | 0.287 | N | 0.105 | 0.105 | 0.132336055621 | gnomAD-4.0.0 | 4.95611E-06 | None | None | None | None | N | None | 1.33234E-05 | 6.66378E-05 | None | 0 | 0 | None | 0 | 0 | 8.47455E-07 | 2.19568E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.493 | ambiguous | 0.3903 | ambiguous | -0.539 | Destabilizing | 0.871 | D | 0.549 | neutral | None | None | None | None | N |
| N/C | 0.5257 | ambiguous | 0.4059 | ambiguous | 0.156 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| N/D | 0.4363 | ambiguous | 0.3553 | ambiguous | 0.489 | Stabilizing | 0.961 | D | 0.487 | neutral | N | 0.487605418 | None | None | N |
| N/E | 0.7542 | likely_pathogenic | 0.6817 | pathogenic | 0.512 | Stabilizing | 0.97 | D | 0.457 | neutral | None | None | None | None | N |
| N/F | 0.7727 | likely_pathogenic | 0.72 | pathogenic | -0.654 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| N/G | 0.605 | likely_pathogenic | 0.527 | ambiguous | -0.777 | Destabilizing | 0.931 | D | 0.481 | neutral | None | None | None | None | N |
| N/H | 0.2243 | likely_benign | 0.1825 | benign | -0.542 | Destabilizing | 0.998 | D | 0.475 | neutral | N | 0.508872947 | None | None | N |
| N/I | 0.4995 | ambiguous | 0.4165 | ambiguous | 0.018 | Stabilizing | 0.994 | D | 0.713 | prob.delet. | N | 0.502634628 | None | None | N |
| N/K | 0.7073 | likely_pathogenic | 0.6284 | pathogenic | 0.193 | Stabilizing | 0.984 | D | 0.449 | neutral | N | 0.496349953 | None | None | N |
| N/L | 0.5195 | ambiguous | 0.4567 | ambiguous | 0.018 | Stabilizing | 0.985 | D | 0.611 | neutral | None | None | None | None | N |
| N/M | 0.565 | likely_pathogenic | 0.5034 | ambiguous | 0.209 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| N/P | 0.9803 | likely_pathogenic | 0.9636 | pathogenic | -0.139 | Destabilizing | 0.996 | D | 0.663 | neutral | None | None | None | None | N |
| N/Q | 0.6398 | likely_pathogenic | 0.5586 | ambiguous | -0.316 | Destabilizing | 0.996 | D | 0.438 | neutral | None | None | None | None | N |
| N/R | 0.6988 | likely_pathogenic | 0.6262 | pathogenic | 0.208 | Stabilizing | 0.996 | D | 0.436 | neutral | None | None | None | None | N |
| N/S | 0.1156 | likely_benign | 0.0981 | benign | -0.32 | Destabilizing | 0.287 | N | 0.105 | neutral | N | 0.438637519 | None | None | N |
| N/T | 0.2757 | likely_benign | 0.2383 | benign | -0.116 | Destabilizing | 0.925 | D | 0.47 | neutral | N | 0.501563446 | None | None | N |
| N/V | 0.4934 | ambiguous | 0.4168 | ambiguous | -0.139 | Destabilizing | 0.996 | D | 0.643 | neutral | None | None | None | None | N |
| N/W | 0.9479 | likely_pathogenic | 0.9228 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/Y | 0.3538 | ambiguous | 0.3031 | benign | -0.262 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | N | 0.50887602 | 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.