Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6157 | 18694;18695;18696 | chr2:178729784;178729783;178729782 | chr2:179594511;179594510;179594509 |
| N2AB | 5840 | 17743;17744;17745 | chr2:178729784;178729783;178729782 | chr2:179594511;179594510;179594509 |
| N2A | 4913 | 14962;14963;14964 | chr2:178729784;178729783;178729782 | chr2:179594511;179594510;179594509 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/T | rs371882162  |
-0.389 | None | N | 0.138 | 0.085 | None | gnomAD-2.1.1 | 6.78E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.32844E-04 | 1.40292E-04 |
| I/T | rs371882162 |
-0.389 | None | N | 0.138 | 0.085 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.61784E-04 | 0 | 0 |
| I/T | rs371882162 |
-0.389 | None | N | 0.138 | 0.085 | None | gnomAD-4.0.0 | 7.87055E-05 | None | None | None | None | N | None | 2.6698E-05 | 3.33433E-05 | None | 0 | 0 | None | 0 | 0 | 1.02566E-04 | 0 | 3.20225E-05 |
| I/V | None | None | None | N | 0.091 | 0.182 | 0.210429274316 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0973 | likely_benign | 0.0893 | benign | -0.591 | Destabilizing | None | N | 0.115 | neutral | None | None | None | None | N |
| I/C | 0.4541 | ambiguous | 0.4147 | ambiguous | -0.762 | Destabilizing | 0.356 | N | 0.289 | neutral | None | None | None | None | N |
| I/D | 0.2235 | likely_benign | 0.2137 | benign | 0.272 | Stabilizing | 0.072 | N | 0.417 | neutral | None | None | None | None | N |
| I/E | 0.1628 | likely_benign | 0.1483 | benign | 0.219 | Stabilizing | 0.072 | N | 0.376 | neutral | None | None | None | None | N |
| I/F | 0.0974 | likely_benign | 0.0911 | benign | -0.423 | Destabilizing | 0.055 | N | 0.177 | neutral | N | 0.500253692 | None | None | N |
| I/G | 0.2582 | likely_benign | 0.246 | benign | -0.767 | Destabilizing | 0.016 | N | 0.303 | neutral | None | None | None | None | N |
| I/H | 0.1723 | likely_benign | 0.1636 | benign | 0.063 | Stabilizing | 0.628 | D | 0.375 | neutral | None | None | None | None | N |
| I/K | 0.1013 | likely_benign | 0.096 | benign | -0.278 | Destabilizing | 0.072 | N | 0.377 | neutral | None | None | None | None | N |
| I/L | 0.0811 | likely_benign | 0.078 | benign | -0.236 | Destabilizing | None | N | 0.079 | neutral | N | 0.43095111 | None | None | N |
| I/M | 0.0727 | likely_benign | 0.0673 | benign | -0.49 | Destabilizing | 0.002 | N | 0.173 | neutral | N | 0.483822802 | None | None | N |
| I/N | 0.0983 | likely_benign | 0.0887 | benign | -0.226 | Destabilizing | 0.055 | N | 0.466 | neutral | N | 0.462156664 | None | None | N |
| I/P | 0.4015 | ambiguous | 0.3736 | ambiguous | -0.323 | Destabilizing | 0.136 | N | 0.467 | neutral | None | None | None | None | N |
| I/Q | 0.1241 | likely_benign | 0.118 | benign | -0.338 | Destabilizing | 0.136 | N | 0.487 | neutral | None | None | None | None | N |
| I/R | 0.0714 | likely_benign | 0.0719 | benign | 0.166 | Stabilizing | 0.072 | N | 0.45 | neutral | None | None | None | None | N |
| I/S | 0.0863 | likely_benign | 0.0832 | benign | -0.752 | Destabilizing | 0.001 | N | 0.141 | neutral | N | 0.441781392 | None | None | N |
| I/T | 0.0587 | likely_benign | 0.0547 | benign | -0.689 | Destabilizing | None | N | 0.138 | neutral | N | 0.42598522 | None | None | N |
| I/V | 0.0662 | likely_benign | 0.0664 | benign | -0.323 | Destabilizing | None | N | 0.091 | neutral | N | 0.386525542 | None | None | N |
| I/W | 0.4219 | ambiguous | 0.3874 | ambiguous | -0.446 | Destabilizing | 0.864 | D | 0.373 | neutral | None | None | None | None | N |
| I/Y | 0.2687 | likely_benign | 0.2563 | benign | -0.215 | Destabilizing | 0.356 | N | 0.389 | 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.