Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32942 | 99049;99050;99051 | chr2:178539111;178539110;178539109 | chr2:179403838;179403837;179403836 |
| N2AB | 31301 | 94126;94127;94128 | chr2:178539111;178539110;178539109 | chr2:179403838;179403837;179403836 |
| N2A | 30374 | 91345;91346;91347 | chr2:178539111;178539110;178539109 | chr2:179403838;179403837;179403836 |
| N2B | 23877 | 71854;71855;71856 | chr2:178539111;178539110;178539109 | chr2:179403838;179403837;179403836 |
| Novex-1 | 24002 | 72229;72230;72231 | chr2:178539111;178539110;178539109 | chr2:179403838;179403837;179403836 |
| Novex-2 | 24069 | 72430;72431;72432 | chr2:178539111;178539110;178539109 | chr2:179403838;179403837;179403836 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs190967471  |
-0.016 | 0.006 | N | 0.333 | 0.109 | 0.107399877778 | gnomAD-2.1.1 | 9.28E-05 | None | None | None | None | N | None | 9.92063E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.81E-06 | 0 |
| D/E | rs190967471 |
-0.016 | 0.006 | N | 0.333 | 0.109 | 0.107399877778 | gnomAD-3.1.2 | 1.97231E-04 | None | None | None | None | N | None | 6.75937E-04 | 1.31027E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs190967471 |
-0.016 | 0.006 | N | 0.333 | 0.109 | 0.107399877778 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/E | rs190967471 |
-0.016 | 0.006 | N | 0.333 | 0.109 | 0.107399877778 | gnomAD-4.0.0 | 3.59412E-05 | None | None | None | None | N | None | 6.53298E-04 | 8.33333E-05 | None | 0 | 0 | None | 0 | 0 | 1.69528E-06 | 0 | 3.20113E-05 |
| D/N | None | None | 0.822 | N | 0.551 | 0.24 | 0.209622950755 | gnomAD-4.0.0 | 3.18261E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71693E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.26 | likely_benign | 0.2333 | benign | -0.111 | Destabilizing | 0.698 | D | 0.531 | neutral | N | 0.480480561 | None | None | N |
| D/C | 0.774 | likely_pathogenic | 0.7449 | pathogenic | -0.103 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/E | 0.1089 | likely_benign | 0.1031 | benign | -0.191 | Destabilizing | 0.006 | N | 0.333 | neutral | N | 0.413138061 | None | None | N |
| D/F | 0.8373 | likely_pathogenic | 0.8152 | pathogenic | -0.093 | Destabilizing | 0.993 | D | 0.628 | neutral | None | None | None | None | N |
| D/G | 0.1801 | likely_benign | 0.1731 | benign | -0.258 | Destabilizing | 0.822 | D | 0.603 | neutral | N | 0.427528724 | None | None | N |
| D/H | 0.5082 | ambiguous | 0.4784 | ambiguous | 0.387 | Stabilizing | 0.992 | D | 0.605 | neutral | N | 0.516633362 | None | None | N |
| D/I | 0.6323 | likely_pathogenic | 0.5937 | pathogenic | 0.219 | Stabilizing | 0.978 | D | 0.641 | neutral | None | None | None | None | N |
| D/K | 0.5157 | ambiguous | 0.4447 | ambiguous | 0.37 | Stabilizing | 0.754 | D | 0.579 | neutral | None | None | None | None | N |
| D/L | 0.5471 | ambiguous | 0.5102 | ambiguous | 0.219 | Stabilizing | 0.956 | D | 0.634 | neutral | None | None | None | None | N |
| D/M | 0.7559 | likely_pathogenic | 0.728 | pathogenic | 0.117 | Stabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| D/N | 0.1374 | likely_benign | 0.1336 | benign | 0.123 | Stabilizing | 0.822 | D | 0.551 | neutral | N | 0.462220087 | None | None | N |
| D/P | 0.6957 | likely_pathogenic | 0.6328 | pathogenic | 0.13 | Stabilizing | 0.978 | D | 0.618 | neutral | None | None | None | None | N |
| D/Q | 0.3958 | ambiguous | 0.3601 | ambiguous | 0.147 | Stabilizing | 0.915 | D | 0.562 | neutral | None | None | None | None | N |
| D/R | 0.5978 | likely_pathogenic | 0.5488 | ambiguous | 0.615 | Stabilizing | 0.956 | D | 0.613 | neutral | None | None | None | None | N |
| D/S | 0.1572 | likely_benign | 0.1503 | benign | 0.001 | Stabilizing | 0.754 | D | 0.555 | neutral | None | None | None | None | N |
| D/T | 0.3399 | likely_benign | 0.3111 | benign | 0.124 | Stabilizing | 0.956 | D | 0.574 | neutral | None | None | None | None | N |
| D/V | 0.4059 | ambiguous | 0.376 | ambiguous | 0.13 | Stabilizing | 0.942 | D | 0.625 | neutral | N | 0.474824025 | None | None | N |
| D/W | 0.9477 | likely_pathogenic | 0.9349 | pathogenic | -0.001 | Destabilizing | 0.998 | D | 0.686 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5219 | ambiguous | 0.4852 | ambiguous | 0.142 | Stabilizing | 0.99 | D | 0.63 | neutral | N | 0.501741268 | 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.