Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14145 | 42658;42659;42660 | chr2:178634066;178634065;178634064 | chr2:179498793;179498792;179498791 |
| N2AB | 12504 | 37735;37736;37737 | chr2:178634066;178634065;178634064 | chr2:179498793;179498792;179498791 |
| N2A | 11577 | 34954;34955;34956 | chr2:178634066;178634065;178634064 | chr2:179498793;179498792;179498791 |
| N2B | 5080 | 15463;15464;15465 | chr2:178634066;178634065;178634064 | chr2:179498793;179498792;179498791 |
| Novex-1 | 5205 | 15838;15839;15840 | chr2:178634066;178634065;178634064 | chr2:179498793;179498792;179498791 |
| Novex-2 | 5272 | 16039;16040;16041 | chr2:178634066;178634065;178634064 | chr2:179498793;179498792;179498791 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/T | rs794729427  |
0.041 | 0.003 | N | 0.168 | 0.196 | 0.594425430586 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.36E-05 | 0 |
| M/T | rs794729427 |
0.041 | 0.003 | N | 0.168 | 0.196 | 0.594425430586 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| M/T | rs794729427 |
0.041 | 0.003 | N | 0.168 | 0.196 | 0.594425430586 | gnomAD-4.0.0 | 1.17803E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61096E-05 | 0 | 0 |
| M/V | rs763513073 |
-0.245 | None | N | 0.081 | 0.13 | 0.204665344411 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.58E-05 | 0 |
| M/V | rs763513073 |
-0.245 | None | N | 0.081 | 0.13 | 0.204665344411 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/V | rs763513073 |
-0.245 | None | N | 0.081 | 0.13 | 0.204665344411 | gnomAD-4.0.0 | 6.82031E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23554E-05 | None | 0 | 0 | 8.47877E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.2298 | likely_benign | 0.2346 | benign | -0.721 | Destabilizing | 0.004 | N | 0.151 | neutral | None | None | None | None | N |
| M/C | 0.5732 | likely_pathogenic | 0.5818 | pathogenic | -0.775 | Destabilizing | 0.497 | N | 0.335 | neutral | None | None | None | None | N |
| M/D | 0.5191 | ambiguous | 0.5406 | ambiguous | 0.306 | Stabilizing | 0.037 | N | 0.327 | neutral | None | None | None | None | N |
| M/E | 0.2709 | likely_benign | 0.297 | benign | 0.283 | Stabilizing | 0.037 | N | 0.211 | neutral | None | None | None | None | N |
| M/F | 0.2006 | likely_benign | 0.1806 | benign | -0.08 | Destabilizing | 0.018 | N | 0.153 | neutral | None | None | None | None | N |
| M/G | 0.4532 | ambiguous | 0.4636 | ambiguous | -0.951 | Destabilizing | 0.037 | N | 0.243 | neutral | None | None | None | None | N |
| M/H | 0.2995 | likely_benign | 0.3065 | benign | 0.008 | Stabilizing | 0.497 | N | 0.325 | neutral | None | None | None | None | N |
| M/I | 0.0799 | likely_benign | 0.0727 | benign | -0.19 | Destabilizing | None | N | 0.076 | neutral | N | 0.347478605 | None | None | N |
| M/K | 0.1555 | likely_benign | 0.1537 | benign | 0.248 | Stabilizing | 0.028 | N | 0.243 | neutral | N | 0.442839577 | None | None | N |
| M/L | 0.0764 | likely_benign | 0.0718 | benign | -0.19 | Destabilizing | None | N | 0.069 | neutral | N | 0.384629372 | None | None | N |
| M/N | 0.2126 | likely_benign | 0.2192 | benign | 0.33 | Stabilizing | 0.22 | N | 0.398 | neutral | None | None | None | None | N |
| M/P | 0.723 | likely_pathogenic | 0.7194 | pathogenic | -0.337 | Destabilizing | 0.104 | N | 0.354 | neutral | None | None | None | None | N |
| M/Q | 0.1678 | likely_benign | 0.1875 | benign | 0.2 | Stabilizing | 0.22 | N | 0.227 | neutral | None | None | None | None | N |
| M/R | 0.1625 | likely_benign | 0.1556 | benign | 0.745 | Stabilizing | 0.065 | N | 0.367 | neutral | N | 0.427334223 | None | None | N |
| M/S | 0.2038 | likely_benign | 0.2155 | benign | -0.222 | Destabilizing | 0.016 | N | 0.217 | neutral | None | None | None | None | N |
| M/T | 0.104 | likely_benign | 0.1134 | benign | -0.135 | Destabilizing | 0.003 | N | 0.168 | neutral | N | 0.358972105 | None | None | N |
| M/V | 0.0578 | likely_benign | 0.0615 | benign | -0.337 | Destabilizing | None | N | 0.081 | neutral | N | 0.328016381 | None | None | N |
| M/W | 0.5374 | ambiguous | 0.4937 | ambiguous | -0.034 | Destabilizing | 0.497 | N | 0.285 | neutral | None | None | None | None | N |
| M/Y | 0.4089 | ambiguous | 0.3956 | ambiguous | 0.066 | Stabilizing | 0.037 | N | 0.323 | 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.