Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28108 | 84547;84548;84549 | chr2:178561810;178561809;178561808 | chr2:179426537;179426536;179426535 |
| N2AB | 26467 | 79624;79625;79626 | chr2:178561810;178561809;178561808 | chr2:179426537;179426536;179426535 |
| N2A | 25540 | 76843;76844;76845 | chr2:178561810;178561809;178561808 | chr2:179426537;179426536;179426535 |
| N2B | 19043 | 57352;57353;57354 | chr2:178561810;178561809;178561808 | chr2:179426537;179426536;179426535 |
| Novex-1 | 19168 | 57727;57728;57729 | chr2:178561810;178561809;178561808 | chr2:179426537;179426536;179426535 |
| Novex-2 | 19235 | 57928;57929;57930 | chr2:178561810;178561809;178561808 | chr2:179426537;179426536;179426535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 0.984 | N | 0.561 | 0.288 | 0.318540980066 | gnomAD-4.0.0 | 6.84287E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99507E-07 | 0 | 0 |
| A/S | None | None | 0.64 | N | 0.483 | 0.136 | 0.195762928549 | gnomAD-4.0.0 | 6.84287E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65678E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6259 | likely_pathogenic | 0.5841 | pathogenic | -0.769 | Destabilizing | 0.999 | D | 0.513 | neutral | None | None | None | None | I |
| A/D | 0.6917 | likely_pathogenic | 0.7003 | pathogenic | -0.674 | Destabilizing | 0.976 | D | 0.56 | neutral | None | None | None | None | I |
| A/E | 0.6417 | likely_pathogenic | 0.6532 | pathogenic | -0.836 | Destabilizing | 0.968 | D | 0.508 | neutral | N | 0.474824025 | None | None | I |
| A/F | 0.5926 | likely_pathogenic | 0.5898 | pathogenic | -0.961 | Destabilizing | 0.988 | D | 0.63 | neutral | None | None | None | None | I |
| A/G | 0.2115 | likely_benign | 0.208 | benign | -0.358 | Destabilizing | 0.896 | D | 0.409 | neutral | N | 0.424973995 | None | None | I |
| A/H | 0.7301 | likely_pathogenic | 0.7176 | pathogenic | -0.365 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | I |
| A/I | 0.5431 | ambiguous | 0.552 | ambiguous | -0.403 | Destabilizing | 0.976 | D | 0.539 | neutral | None | None | None | None | I |
| A/K | 0.8287 | likely_pathogenic | 0.8246 | pathogenic | -0.69 | Destabilizing | 0.976 | D | 0.529 | neutral | None | None | None | None | I |
| A/L | 0.3318 | likely_benign | 0.3285 | benign | -0.403 | Destabilizing | 0.851 | D | 0.439 | neutral | None | None | None | None | I |
| A/M | 0.3408 | ambiguous | 0.3309 | benign | -0.381 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | I |
| A/N | 0.3814 | ambiguous | 0.3595 | ambiguous | -0.369 | Destabilizing | 0.976 | D | 0.587 | neutral | None | None | None | None | I |
| A/P | 0.709 | likely_pathogenic | 0.7853 | pathogenic | -0.341 | Destabilizing | 0.984 | D | 0.561 | neutral | N | 0.468548627 | None | None | I |
| A/Q | 0.6118 | likely_pathogenic | 0.6079 | pathogenic | -0.689 | Destabilizing | 0.988 | D | 0.564 | neutral | None | None | None | None | I |
| A/R | 0.7563 | likely_pathogenic | 0.7582 | pathogenic | -0.162 | Destabilizing | 0.976 | D | 0.565 | neutral | None | None | None | None | I |
| A/S | 0.1185 | likely_benign | 0.1211 | benign | -0.54 | Destabilizing | 0.64 | D | 0.483 | neutral | N | 0.387973045 | None | None | I |
| A/T | 0.119 | likely_benign | 0.1165 | benign | -0.63 | Destabilizing | 0.011 | N | 0.147 | neutral | N | 0.370851508 | None | None | I |
| A/V | 0.2448 | likely_benign | 0.2487 | benign | -0.341 | Destabilizing | 0.811 | D | 0.411 | neutral | N | 0.458105134 | None | None | I |
| A/W | 0.8945 | likely_pathogenic | 0.8997 | pathogenic | -1.083 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | None | None | None | None | I |
| A/Y | 0.6885 | likely_pathogenic | 0.6813 | pathogenic | -0.743 | Destabilizing | 0.996 | D | 0.629 | 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.