Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24641 | 74146;74147;74148 | chr2:178572211;178572210;178572209 | chr2:179436938;179436937;179436936 |
| N2AB | 23000 | 69223;69224;69225 | chr2:178572211;178572210;178572209 | chr2:179436938;179436937;179436936 |
| N2A | 22073 | 66442;66443;66444 | chr2:178572211;178572210;178572209 | chr2:179436938;179436937;179436936 |
| N2B | 15576 | 46951;46952;46953 | chr2:178572211;178572210;178572209 | chr2:179436938;179436937;179436936 |
| Novex-1 | 15701 | 47326;47327;47328 | chr2:178572211;178572210;178572209 | chr2:179436938;179436937;179436936 |
| Novex-2 | 15768 | 47527;47528;47529 | chr2:178572211;178572210;178572209 | chr2:179436938;179436937;179436936 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs993198870  |
None | 0.566 | N | 0.558 | 0.278 | 0.307648195649 | gnomAD-4.0.0 | 3.42178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.4979E-06 | 0 | 0 |
| E/Q | None | None | 0.654 | N | 0.506 | 0.23 | 0.312608672186 | gnomAD-4.0.0 | 6.84356E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9958E-06 | 0 | 0 |
| E/V | rs754060793 |
0.22 | 0.755 | N | 0.523 | 0.361 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| E/V | rs754060793 |
0.22 | 0.755 | N | 0.523 | 0.361 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/V | rs754060793 |
0.22 | 0.755 | N | 0.523 | 0.361 | None | gnomAD-4.0.0 | 7.43779E-06 | None | None | None | None | N | None | 2.67023E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47719E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2737 | likely_benign | 0.2546 | benign | -0.181 | Destabilizing | 0.413 | N | 0.557 | neutral | N | 0.477037611 | None | None | N |
| E/C | 0.9379 | likely_pathogenic | 0.9319 | pathogenic | -0.284 | Destabilizing | 0.987 | D | 0.704 | prob.neutral | None | None | None | None | N |
| E/D | 0.1222 | likely_benign | 0.1452 | benign | -0.325 | Destabilizing | None | N | 0.152 | neutral | N | 0.448101571 | None | None | N |
| E/F | 0.8791 | likely_pathogenic | 0.8716 | pathogenic | -0.04 | Destabilizing | 0.974 | D | 0.621 | neutral | None | None | None | None | N |
| E/G | 0.3679 | ambiguous | 0.3506 | ambiguous | -0.345 | Destabilizing | 0.701 | D | 0.553 | neutral | N | 0.473653376 | None | None | N |
| E/H | 0.7634 | likely_pathogenic | 0.7345 | pathogenic | 0.498 | Stabilizing | 0.964 | D | 0.512 | neutral | None | None | None | None | N |
| E/I | 0.4075 | ambiguous | 0.3928 | ambiguous | 0.207 | Stabilizing | 0.852 | D | 0.626 | neutral | None | None | None | None | N |
| E/K | 0.4102 | ambiguous | 0.3792 | ambiguous | 0.327 | Stabilizing | 0.566 | D | 0.558 | neutral | N | 0.489273403 | None | None | N |
| E/L | 0.4827 | ambiguous | 0.4663 | ambiguous | 0.207 | Stabilizing | 0.852 | D | 0.613 | neutral | None | None | None | None | N |
| E/M | 0.6003 | likely_pathogenic | 0.5714 | pathogenic | 0.004 | Stabilizing | 0.922 | D | 0.617 | neutral | None | None | None | None | N |
| E/N | 0.431 | ambiguous | 0.4381 | ambiguous | -0.043 | Destabilizing | 0.159 | N | 0.542 | neutral | None | None | None | None | N |
| E/P | 0.7499 | likely_pathogenic | 0.7669 | pathogenic | 0.097 | Stabilizing | 0.461 | N | 0.482 | neutral | None | None | None | None | N |
| E/Q | 0.2987 | likely_benign | 0.2661 | benign | -0.003 | Destabilizing | 0.654 | D | 0.506 | neutral | N | 0.517577512 | None | None | N |
| E/R | 0.5833 | likely_pathogenic | 0.5599 | ambiguous | 0.642 | Stabilizing | 0.925 | D | 0.509 | neutral | None | None | None | None | N |
| E/S | 0.3335 | likely_benign | 0.3291 | benign | -0.184 | Destabilizing | 0.483 | N | 0.533 | neutral | None | None | None | None | N |
| E/T | 0.3905 | ambiguous | 0.3759 | ambiguous | -0.041 | Destabilizing | 0.563 | D | 0.51 | neutral | None | None | None | None | N |
| E/V | 0.2827 | likely_benign | 0.2684 | benign | 0.097 | Stabilizing | 0.755 | D | 0.523 | neutral | N | 0.513614487 | None | None | N |
| E/W | 0.9657 | likely_pathogenic | 0.9618 | pathogenic | 0.084 | Stabilizing | 0.997 | D | 0.733 | prob.delet. | None | None | None | None | N |
| E/Y | 0.8296 | likely_pathogenic | 0.8173 | pathogenic | 0.199 | Stabilizing | 0.99 | D | 0.597 | 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.