Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16418 | 49477;49478;49479 | chr2:178614145;178614144;178614143 | chr2:179478872;179478871;179478870 |
| N2AB | 14777 | 44554;44555;44556 | chr2:178614145;178614144;178614143 | chr2:179478872;179478871;179478870 |
| N2A | 13850 | 41773;41774;41775 | chr2:178614145;178614144;178614143 | chr2:179478872;179478871;179478870 |
| N2B | 7353 | 22282;22283;22284 | chr2:178614145;178614144;178614143 | chr2:179478872;179478871;179478870 |
| Novex-1 | 7478 | 22657;22658;22659 | chr2:178614145;178614144;178614143 | chr2:179478872;179478871;179478870 |
| Novex-2 | 7545 | 22858;22859;22860 | chr2:178614145;178614144;178614143 | chr2:179478872;179478871;179478870 |
| 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/K | rs749986997  |
0.196 | 0.642 | N | 0.324 | 0.129 | 0.184867976434 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs749986997 |
0.196 | 0.642 | N | 0.324 | 0.129 | 0.184867976434 | gnomAD-4.0.0 | 1.59401E-06 | None | None | None | None | N | None | 5.67408E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs757956453 |
0.021 | 0.425 | N | 0.375 | 0.153 | 0.180583059064 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| N/S | rs757956453 |
0.021 | 0.425 | N | 0.375 | 0.153 | 0.180583059064 | gnomAD-4.0.0 | 1.36944E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99831E-07 | 0 | 1.65876E-05 |
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 | 0.218 | likely_benign | 0.202 | benign | -0.29 | Destabilizing | 0.495 | N | 0.536 | neutral | None | None | None | None | N |
| N/C | 0.2405 | likely_benign | 0.2163 | benign | 0.336 | Stabilizing | 0.995 | D | 0.505 | neutral | None | None | None | None | N |
| N/D | 0.1335 | likely_benign | 0.1171 | benign | 0.087 | Stabilizing | 0.642 | D | 0.343 | neutral | N | 0.474056499 | None | None | N |
| N/E | 0.3233 | likely_benign | 0.2822 | benign | 0.063 | Stabilizing | 0.495 | N | 0.325 | neutral | None | None | None | None | N |
| N/F | 0.3836 | ambiguous | 0.3583 | ambiguous | -0.584 | Destabilizing | 0.003 | N | 0.312 | neutral | None | None | None | None | N |
| N/G | 0.1241 | likely_benign | 0.1217 | benign | -0.483 | Destabilizing | 0.495 | N | 0.359 | neutral | None | None | None | None | N |
| N/H | 0.0913 | likely_benign | 0.0854 | benign | -0.491 | Destabilizing | 0.002 | N | 0.161 | neutral | N | 0.477324994 | None | None | N |
| N/I | 0.4846 | ambiguous | 0.4379 | ambiguous | 0.132 | Stabilizing | 0.473 | N | 0.549 | neutral | D | 0.607815768 | None | None | N |
| N/K | 0.2889 | likely_benign | 0.2394 | benign | 0.038 | Stabilizing | 0.642 | D | 0.324 | neutral | N | 0.479860492 | None | None | N |
| N/L | 0.2031 | likely_benign | 0.1893 | benign | 0.132 | Stabilizing | 0.003 | N | 0.308 | neutral | None | None | None | None | N |
| N/M | 0.2938 | likely_benign | 0.2723 | benign | 0.398 | Stabilizing | 0.893 | D | 0.504 | neutral | None | None | None | None | N |
| N/P | 0.895 | likely_pathogenic | 0.8691 | pathogenic | 0.019 | Stabilizing | 0.981 | D | 0.528 | neutral | None | None | None | None | N |
| N/Q | 0.2386 | likely_benign | 0.2119 | benign | -0.372 | Destabilizing | 0.704 | D | 0.386 | neutral | None | None | None | None | N |
| N/R | 0.3442 | ambiguous | 0.2905 | benign | 0.079 | Stabilizing | 0.704 | D | 0.337 | neutral | None | None | None | None | N |
| N/S | 0.0932 | likely_benign | 0.0909 | benign | -0.168 | Destabilizing | 0.425 | N | 0.375 | neutral | N | 0.477935262 | None | None | N |
| N/T | 0.1889 | likely_benign | 0.1704 | benign | -0.048 | Destabilizing | 0.6 | D | 0.326 | neutral | N | 0.467509559 | None | None | N |
| N/V | 0.3919 | ambiguous | 0.3564 | ambiguous | 0.019 | Stabilizing | 0.329 | N | 0.565 | neutral | None | None | None | None | N |
| N/W | 0.6936 | likely_pathogenic | 0.6545 | pathogenic | -0.567 | Destabilizing | 0.995 | D | 0.505 | neutral | None | None | None | None | N |
| N/Y | 0.1347 | likely_benign | 0.1226 | benign | -0.307 | Destabilizing | 0.27 | N | 0.512 | neutral | N | 0.479879205 | 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.