Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28274 | 85045;85046;85047 | chr2:178561312;178561311;178561310 | chr2:179426039;179426038;179426037 |
| N2AB | 26633 | 80122;80123;80124 | chr2:178561312;178561311;178561310 | chr2:179426039;179426038;179426037 |
| N2A | 25706 | 77341;77342;77343 | chr2:178561312;178561311;178561310 | chr2:179426039;179426038;179426037 |
| N2B | 19209 | 57850;57851;57852 | chr2:178561312;178561311;178561310 | chr2:179426039;179426038;179426037 |
| Novex-1 | 19334 | 58225;58226;58227 | chr2:178561312;178561311;178561310 | chr2:179426039;179426038;179426037 |
| Novex-2 | 19401 | 58426;58427;58428 | chr2:178561312;178561311;178561310 | chr2:179426039;179426038;179426037 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1393654285  |
-0.223 | 0.602 | N | 0.451 | 0.219 | 0.274366138417 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs1393654285 |
-0.223 | 0.602 | N | 0.451 | 0.219 | 0.274366138417 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.7669E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0719 | likely_benign | 0.0707 | benign | -0.601 | Destabilizing | None | N | 0.064 | neutral | N | 0.450835232 | None | None | N |
| S/C | 0.1101 | likely_benign | 0.1043 | benign | -0.43 | Destabilizing | 0.602 | D | 0.451 | neutral | N | 0.470575998 | None | None | N |
| S/D | 0.2517 | likely_benign | 0.236 | benign | -0.344 | Destabilizing | None | N | 0.135 | neutral | None | None | None | None | N |
| S/E | 0.2946 | likely_benign | 0.2712 | benign | -0.333 | Destabilizing | 0.002 | N | 0.127 | neutral | None | None | None | None | N |
| S/F | 0.2065 | likely_benign | 0.1947 | benign | -0.729 | Destabilizing | 0.602 | D | 0.53 | neutral | N | 0.478057963 | None | None | N |
| S/G | 0.0854 | likely_benign | 0.0872 | benign | -0.871 | Destabilizing | 0.025 | N | 0.205 | neutral | None | None | None | None | N |
| S/H | 0.2375 | likely_benign | 0.217 | benign | -1.375 | Destabilizing | 0.667 | D | 0.467 | neutral | None | None | None | None | N |
| S/I | 0.1708 | likely_benign | 0.156 | benign | 0.01 | Stabilizing | 0.124 | N | 0.543 | neutral | None | None | None | None | N |
| S/K | 0.3436 | ambiguous | 0.3011 | benign | -0.813 | Destabilizing | 0.055 | N | 0.253 | neutral | None | None | None | None | N |
| S/L | 0.0829 | likely_benign | 0.0821 | benign | 0.01 | Stabilizing | 0.055 | N | 0.343 | neutral | None | None | None | None | N |
| S/M | 0.153 | likely_benign | 0.147 | benign | 0.166 | Stabilizing | 0.667 | D | 0.461 | neutral | None | None | None | None | N |
| S/N | 0.0944 | likely_benign | 0.0874 | benign | -0.779 | Destabilizing | 0.002 | N | 0.13 | neutral | None | None | None | None | N |
| S/P | 0.3056 | likely_benign | 0.2706 | benign | -0.158 | Destabilizing | 0.301 | N | 0.415 | neutral | D | 0.525063631 | None | None | N |
| S/Q | 0.2741 | likely_benign | 0.2483 | benign | -0.843 | Destabilizing | 0.004 | N | 0.165 | neutral | None | None | None | None | N |
| S/R | 0.3255 | likely_benign | 0.2861 | benign | -0.751 | Destabilizing | 0.124 | N | 0.397 | neutral | None | None | None | None | N |
| S/T | 0.0734 | likely_benign | 0.0702 | benign | -0.716 | Destabilizing | None | N | 0.081 | neutral | N | 0.392458932 | None | None | N |
| S/V | 0.1584 | likely_benign | 0.151 | benign | -0.158 | Destabilizing | 0.055 | N | 0.34 | neutral | None | None | None | None | N |
| S/W | 0.3105 | likely_benign | 0.2912 | benign | -0.785 | Destabilizing | 0.958 | D | 0.503 | neutral | None | None | None | None | N |
| S/Y | 0.1793 | likely_benign | 0.1719 | benign | -0.504 | Destabilizing | 0.602 | D | 0.533 | neutral | N | 0.515270712 | 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.