Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21808 | 65647;65648;65649 | chr2:178583760;178583759;178583758 | chr2:179448487;179448486;179448485 |
| N2AB | 20167 | 60724;60725;60726 | chr2:178583760;178583759;178583758 | chr2:179448487;179448486;179448485 |
| N2A | 19240 | 57943;57944;57945 | chr2:178583760;178583759;178583758 | chr2:179448487;179448486;179448485 |
| N2B | 12743 | 38452;38453;38454 | chr2:178583760;178583759;178583758 | chr2:179448487;179448486;179448485 |
| Novex-1 | 12868 | 38827;38828;38829 | chr2:178583760;178583759;178583758 | chr2:179448487;179448486;179448485 |
| Novex-2 | 12935 | 39028;39029;39030 | chr2:178583760;178583759;178583758 | chr2:179448487;179448486;179448485 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1160479149  |
-1.032 | 0.999 | N | 0.603 | 0.507 | 0.273503213844 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.31E-05 | None | 0 | 0 | 0 |
| N/D | rs1160479149 |
-1.032 | 0.999 | N | 0.603 | 0.507 | 0.273503213844 | gnomAD-4.0.0 | 2.05526E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.49073E-05 | 0 |
| N/H | rs1160479149 |
-0.881 | 1.0 | N | 0.701 | 0.469 | 0.265929055128 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/H | rs1160479149 |
-0.881 | 1.0 | N | 0.701 | 0.469 | 0.265929055128 | gnomAD-4.0.0 | 6.85088E-07 | None | None | None | None | N | None | 0 | 2.24316E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs777905598 |
-0.929 | 0.999 | N | 0.581 | 0.373 | 0.209622950755 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| N/S | rs777905598 |
-0.929 | 0.999 | N | 0.581 | 0.373 | 0.209622950755 | gnomAD-4.0.0 | 1.59598E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86484E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8544 | likely_pathogenic | 0.7177 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/C | 0.7097 | likely_pathogenic | 0.5654 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| N/D | 0.7499 | likely_pathogenic | 0.624 | pathogenic | -1.508 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.481283513 | None | None | N |
| N/E | 0.966 | likely_pathogenic | 0.9336 | pathogenic | -1.247 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| N/F | 0.974 | likely_pathogenic | 0.9415 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| N/G | 0.8047 | likely_pathogenic | 0.6849 | pathogenic | -1.663 | Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| N/H | 0.6132 | likely_pathogenic | 0.4398 | ambiguous | -1.001 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.468890477 | None | None | N |
| N/I | 0.8632 | likely_pathogenic | 0.7497 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.812 | deleterious | N | 0.484170348 | None | None | N |
| N/K | 0.9769 | likely_pathogenic | 0.948 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.478890429 | None | None | N |
| N/L | 0.8306 | likely_pathogenic | 0.7338 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| N/M | 0.922 | likely_pathogenic | 0.8476 | pathogenic | 0.25 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| N/P | 0.9241 | likely_pathogenic | 0.8485 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/Q | 0.9302 | likely_pathogenic | 0.8703 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| N/R | 0.9549 | likely_pathogenic | 0.914 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| N/S | 0.1969 | likely_benign | 0.1386 | benign | -1.294 | Destabilizing | 0.999 | D | 0.581 | neutral | N | 0.520961747 | None | None | N |
| N/T | 0.5076 | ambiguous | 0.3829 | ambiguous | -0.82 | Destabilizing | 0.999 | D | 0.631 | neutral | N | 0.465973507 | None | None | N |
| N/V | 0.8153 | likely_pathogenic | 0.6853 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/W | 0.9909 | likely_pathogenic | 0.9798 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| N/Y | 0.8604 | likely_pathogenic | 0.7446 | pathogenic | -0.079 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.48215934 | 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.