Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5309 | 16150;16151;16152 | chr2:178733368;178733367;178733366 | chr2:179598095;179598094;179598093 |
| N2AB | 4992 | 15199;15200;15201 | chr2:178733368;178733367;178733366 | chr2:179598095;179598094;179598093 |
| N2A | 4065 | 12418;12419;12420 | chr2:178733368;178733367;178733366 | chr2:179598095;179598094;179598093 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/K | rs780870014  |
-1.003 | 0.484 | D | 0.563 | 0.615 | 0.798245613507 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| I/K | rs780870014 |
-1.003 | 0.484 | D | 0.563 | 0.615 | 0.798245613507 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77408E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/M | None | None | 0.012 | N | 0.281 | 0.093 | 0.409398589964 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/R | None | None | 0.484 | D | 0.561 | 0.587 | 0.801433514956 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85827E-06 | 0 | 0 |
| I/V | rs749755802 |
-0.927 | None | D | 0.156 | 0.091 | 0.350524144436 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/V | rs749755802 |
-0.927 | None | D | 0.156 | 0.091 | 0.350524144436 | gnomAD-4.0.0 | 1.31449E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94023E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5975 | likely_pathogenic | 0.5713 | pathogenic | -2.047 | Highly Destabilizing | 0.035 | N | 0.353 | neutral | None | None | None | None | N |
| I/C | 0.7021 | likely_pathogenic | 0.6948 | pathogenic | -1.29 | Destabilizing | 0.824 | D | 0.451 | neutral | None | None | None | None | N |
| I/D | 0.8966 | likely_pathogenic | 0.8811 | pathogenic | -1.605 | Destabilizing | 0.555 | D | 0.568 | neutral | None | None | None | None | N |
| I/E | 0.8069 | likely_pathogenic | 0.7852 | pathogenic | -1.462 | Destabilizing | 0.555 | D | 0.575 | neutral | None | None | None | None | N |
| I/F | 0.1393 | likely_benign | 0.1297 | benign | -1.22 | Destabilizing | 0.001 | N | 0.216 | neutral | None | None | None | None | N |
| I/G | 0.8237 | likely_pathogenic | 0.8057 | pathogenic | -2.51 | Highly Destabilizing | 0.555 | D | 0.557 | neutral | None | None | None | None | N |
| I/H | 0.6731 | likely_pathogenic | 0.6492 | pathogenic | -1.704 | Destabilizing | 0.935 | D | 0.555 | neutral | None | None | None | None | N |
| I/K | 0.639 | likely_pathogenic | 0.628 | pathogenic | -1.43 | Destabilizing | 0.484 | N | 0.563 | neutral | D | 0.667650678 | None | None | N |
| I/L | 0.1031 | likely_benign | 0.1043 | benign | -0.77 | Destabilizing | None | N | 0.101 | neutral | N | 0.506150684 | None | None | N |
| I/M | 0.095 | likely_benign | 0.0999 | benign | -0.668 | Destabilizing | 0.012 | N | 0.281 | neutral | N | 0.512842328 | None | None | N |
| I/N | 0.5109 | ambiguous | 0.4628 | ambiguous | -1.52 | Destabilizing | 0.791 | D | 0.565 | neutral | None | None | None | None | N |
| I/P | 0.8907 | likely_pathogenic | 0.8604 | pathogenic | -1.169 | Destabilizing | 0.791 | D | 0.567 | neutral | None | None | None | None | N |
| I/Q | 0.6251 | likely_pathogenic | 0.6104 | pathogenic | -1.492 | Destabilizing | 0.555 | D | 0.556 | neutral | None | None | None | None | N |
| I/R | 0.5591 | ambiguous | 0.5523 | ambiguous | -1.051 | Destabilizing | 0.484 | N | 0.561 | neutral | D | 0.628830208 | None | None | N |
| I/S | 0.5286 | ambiguous | 0.4934 | ambiguous | -2.243 | Highly Destabilizing | 0.149 | N | 0.507 | neutral | None | None | None | None | N |
| I/T | 0.4227 | ambiguous | 0.4134 | ambiguous | -1.953 | Destabilizing | 0.062 | N | 0.433 | neutral | D | 0.541352522 | None | None | N |
| I/V | 0.1192 | likely_benign | 0.1159 | benign | -1.169 | Destabilizing | None | N | 0.156 | neutral | D | 0.522094076 | None | None | N |
| I/W | 0.6951 | likely_pathogenic | 0.707 | pathogenic | -1.42 | Destabilizing | 0.824 | D | 0.577 | neutral | None | None | None | None | N |
| I/Y | 0.4405 | ambiguous | 0.4149 | ambiguous | -1.144 | Destabilizing | 0.235 | N | 0.481 | 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.