Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28211 | 84856;84857;84858 | chr2:178561501;178561500;178561499 | chr2:179426228;179426227;179426226 |
| N2AB | 26570 | 79933;79934;79935 | chr2:178561501;178561500;178561499 | chr2:179426228;179426227;179426226 |
| N2A | 25643 | 77152;77153;77154 | chr2:178561501;178561500;178561499 | chr2:179426228;179426227;179426226 |
| N2B | 19146 | 57661;57662;57663 | chr2:178561501;178561500;178561499 | chr2:179426228;179426227;179426226 |
| Novex-1 | 19271 | 58036;58037;58038 | chr2:178561501;178561500;178561499 | chr2:179426228;179426227;179426226 |
| Novex-2 | 19338 | 58237;58238;58239 | chr2:178561501;178561500;178561499 | chr2:179426228;179426227;179426226 |
| 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/G | rs1168835158  |
-0.424 | 0.338 | N | 0.417 | 0.217 | 0.185906805712 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| D/G | rs1168835158 |
-0.424 | 0.338 | N | 0.417 | 0.217 | 0.185906805712 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs1168835158 |
-0.424 | 0.338 | N | 0.417 | 0.217 | 0.185906805712 | gnomAD-4.0.0 | 3.71838E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54293E-06 | 0 | 4.80323E-05 |
| D/N | rs777440731 |
-0.146 | 0.003 | N | 0.169 | 0.166 | 0.137902524267 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.54289E-04 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs777440731 |
-0.146 | 0.003 | N | 0.169 | 0.166 | 0.137902524267 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs777440731 |
-0.146 | 0.003 | N | 0.169 | 0.166 | 0.137902524267 | gnomAD-4.0.0 | 6.57237E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.93349E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2428 | likely_benign | 0.2672 | benign | -0.061 | Destabilizing | 0.505 | D | 0.432 | neutral | N | 0.506840443 | None | None | I |
| D/C | 0.74 | likely_pathogenic | 0.7773 | pathogenic | -0.233 | Destabilizing | 0.991 | D | 0.638 | neutral | None | None | None | None | I |
| D/E | 0.1627 | likely_benign | 0.1644 | benign | -0.472 | Destabilizing | 0.001 | N | 0.09 | neutral | N | 0.434382912 | None | None | I |
| D/F | 0.8125 | likely_pathogenic | 0.8326 | pathogenic | 0.482 | Stabilizing | 0.967 | D | 0.571 | neutral | None | None | None | None | I |
| D/G | 0.1586 | likely_benign | 0.1788 | benign | -0.364 | Destabilizing | 0.338 | N | 0.417 | neutral | N | 0.50430157 | None | None | I |
| D/H | 0.3881 | ambiguous | 0.431 | ambiguous | 0.717 | Stabilizing | 0.782 | D | 0.505 | neutral | D | 0.524330126 | None | None | I |
| D/I | 0.7356 | likely_pathogenic | 0.7514 | pathogenic | 0.72 | Stabilizing | 0.906 | D | 0.553 | neutral | None | None | None | None | I |
| D/K | 0.4713 | ambiguous | 0.5121 | ambiguous | 0.14 | Stabilizing | 0.404 | N | 0.418 | neutral | None | None | None | None | I |
| D/L | 0.6703 | likely_pathogenic | 0.6928 | pathogenic | 0.72 | Stabilizing | 0.826 | D | 0.498 | neutral | None | None | None | None | I |
| D/M | 0.789 | likely_pathogenic | 0.8029 | pathogenic | 0.642 | Stabilizing | 0.991 | D | 0.567 | neutral | None | None | None | None | I |
| D/N | 0.1064 | likely_benign | 0.1161 | benign | -0.496 | Destabilizing | 0.003 | N | 0.169 | neutral | N | 0.465479755 | None | None | I |
| D/P | 0.902 | likely_pathogenic | 0.909 | pathogenic | 0.484 | Stabilizing | 0.906 | D | 0.483 | neutral | None | None | None | None | I |
| D/Q | 0.3933 | ambiguous | 0.424 | ambiguous | -0.349 | Destabilizing | 0.404 | N | 0.405 | neutral | None | None | None | None | I |
| D/R | 0.5424 | ambiguous | 0.5821 | pathogenic | 0.52 | Stabilizing | 0.826 | D | 0.469 | neutral | None | None | None | None | I |
| D/S | 0.1394 | likely_benign | 0.1507 | benign | -0.64 | Destabilizing | 0.404 | N | 0.36 | neutral | None | None | None | None | I |
| D/T | 0.3248 | likely_benign | 0.3489 | ambiguous | -0.372 | Destabilizing | 0.404 | N | 0.463 | neutral | None | None | None | None | I |
| D/V | 0.5067 | ambiguous | 0.525 | ambiguous | 0.484 | Stabilizing | 0.879 | D | 0.495 | neutral | N | 0.466102092 | None | None | I |
| D/W | 0.9582 | likely_pathogenic | 0.9644 | pathogenic | 0.667 | Stabilizing | 0.991 | D | 0.655 | neutral | None | None | None | None | I |
| D/Y | 0.4629 | ambiguous | 0.4956 | ambiguous | 0.756 | Stabilizing | 0.957 | D | 0.569 | neutral | N | 0.478245319 | None | None | I |
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.