Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6596 | 20011;20012;20013 | chr2:178727792;178727791;178727790 | chr2:179592519;179592518;179592517 |
| N2AB | 6279 | 19060;19061;19062 | chr2:178727792;178727791;178727790 | chr2:179592519;179592518;179592517 |
| N2A | 5352 | 16279;16280;16281 | chr2:178727792;178727791;178727790 | chr2:179592519;179592518;179592517 |
| 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/M | rs2079617659  |
None | 0.108 | D | 0.421 | 0.059 | 0.231873229951 | gnomAD-4.0.0 | 1.59302E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43559E-05 | 0 |
| I/T | None | None | None | N | 0.153 | 0.111 | 0.541285430251 | 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 |
| I/V | rs369108292 |
-0.76 | None | N | 0.085 | 0.08 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 6.47E-05 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs369108292 |
-0.76 | None | N | 0.085 | 0.08 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs369108292 |
-0.76 | None | N | 0.085 | 0.08 | None | gnomAD-4.0.0 | 4.34001E-06 | None | None | None | None | N | None | 8.01196E-05 | 1.66767E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1392 | likely_benign | 0.1361 | benign | -1.583 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | N |
| I/C | 0.5432 | ambiguous | 0.5332 | ambiguous | -1.083 | Destabilizing | 0.245 | N | 0.48 | neutral | None | None | None | None | N |
| I/D | 0.2699 | likely_benign | 0.2704 | benign | -0.488 | Destabilizing | 0.009 | N | 0.399 | neutral | None | None | None | None | N |
| I/E | 0.2113 | likely_benign | 0.2306 | benign | -0.45 | Destabilizing | None | N | 0.343 | neutral | None | None | None | None | N |
| I/F | 0.1126 | likely_benign | 0.1127 | benign | -0.993 | Destabilizing | 0.044 | N | 0.339 | neutral | None | None | None | None | N |
| I/G | 0.3211 | likely_benign | 0.3192 | benign | -1.936 | Destabilizing | 0.008 | N | 0.367 | neutral | None | None | None | None | N |
| I/H | 0.2697 | likely_benign | 0.2848 | benign | -1.077 | Destabilizing | 0.245 | N | 0.556 | neutral | None | None | None | None | N |
| I/K | 0.1768 | likely_benign | 0.2015 | benign | -0.867 | Destabilizing | 0.003 | N | 0.385 | neutral | N | 0.446744495 | None | None | N |
| I/L | 0.094 | likely_benign | 0.0924 | benign | -0.679 | Destabilizing | 0.001 | N | 0.137 | neutral | N | 0.481494573 | None | None | N |
| I/M | 0.0816 | likely_benign | 0.0815 | benign | -0.627 | Destabilizing | 0.108 | N | 0.421 | neutral | D | 0.52413063 | None | None | N |
| I/N | 0.1059 | likely_benign | 0.1042 | benign | -0.719 | Destabilizing | 0.018 | N | 0.456 | neutral | None | None | None | None | N |
| I/P | 0.5695 | likely_pathogenic | 0.6146 | pathogenic | -0.949 | Destabilizing | 0.037 | N | 0.46 | neutral | None | None | None | None | N |
| I/Q | 0.1866 | likely_benign | 0.2006 | benign | -0.832 | Destabilizing | 0.009 | N | 0.501 | neutral | None | None | None | None | N |
| I/R | 0.139 | likely_benign | 0.1507 | benign | -0.411 | Destabilizing | 0.014 | N | 0.485 | neutral | N | 0.480281065 | None | None | N |
| I/S | 0.1172 | likely_benign | 0.1153 | benign | -1.495 | Destabilizing | None | N | 0.225 | neutral | None | None | None | None | N |
| I/T | 0.0958 | likely_benign | 0.0944 | benign | -1.33 | Destabilizing | None | N | 0.153 | neutral | N | 0.452419673 | None | None | N |
| I/V | 0.0575 | likely_benign | 0.0555 | benign | -0.949 | Destabilizing | None | N | 0.085 | neutral | N | 0.43300998 | None | None | N |
| I/W | 0.6576 | likely_pathogenic | 0.6633 | pathogenic | -1.032 | Destabilizing | 0.788 | D | 0.535 | neutral | None | None | None | None | N |
| I/Y | 0.3328 | likely_benign | 0.3396 | benign | -0.792 | Destabilizing | 0.085 | N | 0.471 | 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.