Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28367 | 85324;85325;85326 | chr2:178561033;178561032;178561031 | chr2:179425760;179425759;179425758 |
| N2AB | 26726 | 80401;80402;80403 | chr2:178561033;178561032;178561031 | chr2:179425760;179425759;179425758 |
| N2A | 25799 | 77620;77621;77622 | chr2:178561033;178561032;178561031 | chr2:179425760;179425759;179425758 |
| N2B | 19302 | 58129;58130;58131 | chr2:178561033;178561032;178561031 | chr2:179425760;179425759;179425758 |
| Novex-1 | 19427 | 58504;58505;58506 | chr2:178561033;178561032;178561031 | chr2:179425760;179425759;179425758 |
| Novex-2 | 19494 | 58705;58706;58707 | chr2:178561033;178561032;178561031 | chr2:179425760;179425759;179425758 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 0.175 | N | 0.29 | 0.205 | 0.328486982098 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/T | rs1199614118  |
-0.802 | 0.081 | D | 0.312 | 0.39 | 0.711956708817 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| I/T | rs1199614118 |
-0.802 | 0.081 | D | 0.312 | 0.39 | 0.711956708817 | 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 |
| I/T | rs1199614118 |
-0.802 | 0.081 | D | 0.312 | 0.39 | 0.711956708817 | gnomAD-4.0.0 | 3.84294E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17844E-06 | 0 | 0 |
| I/V | None | None | None | N | 0.125 | 0.083 | 0.298745278005 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3051 | likely_benign | 0.2667 | benign | -1.996 | Destabilizing | 0.055 | N | 0.293 | neutral | None | None | None | None | I |
| I/C | 0.7193 | likely_pathogenic | 0.681 | pathogenic | -1.357 | Destabilizing | 0.667 | D | 0.315 | neutral | None | None | None | None | I |
| I/D | 0.86 | likely_pathogenic | 0.7932 | pathogenic | -1.547 | Destabilizing | 0.667 | D | 0.385 | neutral | None | None | None | None | I |
| I/E | 0.7153 | likely_pathogenic | 0.6608 | pathogenic | -1.467 | Destabilizing | 0.364 | N | 0.414 | neutral | None | None | None | None | I |
| I/F | 0.2209 | likely_benign | 0.1831 | benign | -1.243 | Destabilizing | 0.175 | N | 0.29 | neutral | N | 0.489304089 | None | None | I |
| I/G | 0.7837 | likely_pathogenic | 0.724 | pathogenic | -2.405 | Highly Destabilizing | 0.364 | N | 0.413 | neutral | None | None | None | None | I |
| I/H | 0.6377 | likely_pathogenic | 0.5741 | pathogenic | -1.592 | Destabilizing | 0.958 | D | 0.283 | neutral | None | None | None | None | I |
| I/K | 0.5214 | ambiguous | 0.4635 | ambiguous | -1.587 | Destabilizing | 0.364 | N | 0.406 | neutral | None | None | None | None | I |
| I/L | 0.1033 | likely_benign | 0.1001 | benign | -0.9 | Destabilizing | None | N | 0.104 | neutral | N | 0.488689904 | None | None | I |
| I/M | 0.1047 | likely_benign | 0.0937 | benign | -0.769 | Destabilizing | 0.008 | N | 0.25 | neutral | D | 0.529827238 | None | None | I |
| I/N | 0.4921 | ambiguous | 0.403 | ambiguous | -1.538 | Destabilizing | 0.822 | D | 0.339 | neutral | D | 0.526273067 | None | None | I |
| I/P | 0.8681 | likely_pathogenic | 0.8143 | pathogenic | -1.237 | Destabilizing | 0.859 | D | 0.379 | neutral | None | None | None | None | I |
| I/Q | 0.5687 | likely_pathogenic | 0.5212 | ambiguous | -1.596 | Destabilizing | 0.667 | D | 0.341 | neutral | None | None | None | None | I |
| I/R | 0.4151 | ambiguous | 0.3574 | ambiguous | -1.058 | Destabilizing | 0.667 | D | 0.36 | neutral | None | None | None | None | I |
| I/S | 0.4067 | ambiguous | 0.3399 | benign | -2.203 | Highly Destabilizing | 0.175 | N | 0.359 | neutral | N | 0.502381914 | None | None | I |
| I/T | 0.1697 | likely_benign | 0.1373 | benign | -1.986 | Destabilizing | 0.081 | N | 0.312 | neutral | D | 0.533155545 | None | None | I |
| I/V | 0.0775 | likely_benign | 0.0733 | benign | -1.237 | Destabilizing | None | N | 0.125 | neutral | N | 0.43735422 | None | None | I |
| I/W | 0.8448 | likely_pathogenic | 0.7902 | pathogenic | -1.382 | Destabilizing | 0.958 | D | 0.297 | neutral | None | None | None | None | I |
| I/Y | 0.594 | likely_pathogenic | 0.5431 | ambiguous | -1.165 | Destabilizing | 0.667 | D | 0.384 | neutral | None | None | 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.