Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35430 | 106513;106514;106515 | chr2:178530327;178530326;178530325 | chr2:179395054;179395053;179395052 |
| N2AB | 33789 | 101590;101591;101592 | chr2:178530327;178530326;178530325 | chr2:179395054;179395053;179395052 |
| N2A | 32862 | 98809;98810;98811 | chr2:178530327;178530326;178530325 | chr2:179395054;179395053;179395052 |
| N2B | 26365 | 79318;79319;79320 | chr2:178530327;178530326;178530325 | chr2:179395054;179395053;179395052 |
| Novex-1 | 26490 | 79693;79694;79695 | chr2:178530327;178530326;178530325 | chr2:179395054;179395053;179395052 |
| Novex-2 | 26557 | 79894;79895;79896 | chr2:178530327;178530326;178530325 | chr2:179395054;179395053;179395052 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1225799039  |
-0.495 | 0.271 | D | 0.403 | 0.076 | 0.181679512989 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/A | rs1225799039 |
-0.495 | 0.271 | D | 0.403 | 0.076 | 0.181679512989 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs1225799039 |
-0.495 | 0.271 | D | 0.403 | 0.076 | 0.181679512989 | gnomAD-4.0.0 | 6.57099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46985E-05 | 0 | 0 |
| T/I | None | None | 0.474 | D | 0.417 | 0.176 | 0.39709148275 | gnomAD-4.0.0 | 1.59099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85762E-06 | 0 | 0 |
| T/S | None | None | 0.01 | N | 0.099 | 0.056 | 0.184867976434 | gnomAD-4.0.0 | 1.59099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77285E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0905 | likely_benign | 0.0929 | benign | -0.36 | Destabilizing | 0.271 | N | 0.403 | neutral | D | 0.524938706 | None | None | N |
| T/C | 0.649 | likely_pathogenic | 0.6644 | pathogenic | -0.252 | Destabilizing | 0.995 | D | 0.486 | neutral | None | None | None | None | N |
| T/D | 0.3763 | ambiguous | 0.4218 | ambiguous | 0.242 | Stabilizing | 0.705 | D | 0.437 | neutral | None | None | None | None | N |
| T/E | 0.2892 | likely_benign | 0.3087 | benign | 0.17 | Stabilizing | 0.705 | D | 0.444 | neutral | None | None | None | None | N |
| T/F | 0.2744 | likely_benign | 0.2964 | benign | -0.797 | Destabilizing | 0.944 | D | 0.542 | neutral | None | None | None | None | N |
| T/G | 0.3242 | likely_benign | 0.3653 | ambiguous | -0.502 | Destabilizing | 0.544 | D | 0.446 | neutral | None | None | None | None | N |
| T/H | 0.3379 | likely_benign | 0.3707 | ambiguous | -0.793 | Destabilizing | 0.995 | D | 0.531 | neutral | None | None | None | None | N |
| T/I | 0.1762 | likely_benign | 0.1843 | benign | -0.103 | Destabilizing | 0.474 | N | 0.417 | neutral | D | 0.524978779 | None | None | N |
| T/K | 0.2336 | likely_benign | 0.2551 | benign | -0.362 | Destabilizing | 0.705 | D | 0.439 | neutral | None | None | None | None | N |
| T/L | 0.1405 | likely_benign | 0.1513 | benign | -0.103 | Destabilizing | 0.33 | N | 0.423 | neutral | None | None | None | None | N |
| T/M | 0.1194 | likely_benign | 0.1238 | benign | 0.054 | Stabilizing | 0.944 | D | 0.483 | neutral | None | None | None | None | N |
| T/N | 0.1614 | likely_benign | 0.1768 | benign | -0.132 | Destabilizing | 0.643 | D | 0.417 | neutral | N | 0.487302626 | None | None | N |
| T/P | 0.2497 | likely_benign | 0.2911 | benign | -0.159 | Destabilizing | 0.928 | D | 0.443 | neutral | N | 0.51563755 | None | None | N |
| T/Q | 0.2805 | likely_benign | 0.3023 | benign | -0.359 | Destabilizing | 0.893 | D | 0.469 | neutral | None | None | None | None | N |
| T/R | 0.1855 | likely_benign | 0.2081 | benign | -0.1 | Destabilizing | 0.893 | D | 0.466 | neutral | None | None | None | None | N |
| T/S | 0.1253 | likely_benign | 0.1358 | benign | -0.366 | Destabilizing | 0.01 | N | 0.099 | neutral | N | 0.494847873 | None | None | N |
| T/V | 0.1512 | likely_benign | 0.1525 | benign | -0.159 | Destabilizing | 0.031 | N | 0.133 | neutral | None | None | None | None | N |
| T/W | 0.6596 | likely_pathogenic | 0.7026 | pathogenic | -0.792 | Destabilizing | 0.995 | D | 0.643 | neutral | None | None | None | None | N |
| T/Y | 0.3664 | ambiguous | 0.3993 | ambiguous | -0.513 | Destabilizing | 0.981 | D | 0.538 | 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.