Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5519 | 16780;16781;16782 | chr2:178732506;178732505;178732504 | chr2:179597233;179597232;179597231 |
| N2AB | 5202 | 15829;15830;15831 | chr2:178732506;178732505;178732504 | chr2:179597233;179597232;179597231 |
| N2A | 4275 | 13048;13049;13050 | chr2:178732506;178732505;178732504 | chr2:179597233;179597232;179597231 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | None | None | 0.001 | N | 0.217 | 0.229 | 0.341460817117 | gnomAD-4.0.0 | 6.84267E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73671E-04 | 0 | 0 | 0 |
| T/M | rs1048810880  |
0.13 | 0.895 | N | 0.475 | 0.157 | 0.660169151521 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/M | rs1048810880 |
0.13 | 0.895 | N | 0.475 | 0.157 | 0.660169151521 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/M | rs1048810880 |
0.13 | 0.895 | N | 0.475 | 0.157 | 0.660169151521 | gnomAD-4.0.0 | 1.42544E-05 | None | None | None | None | N | None | 0 | 3.335E-05 | None | 0 | 0 | None | 0 | 1.64636E-04 | 1.35625E-05 | 1.09808E-05 | 4.80354E-05 |
| T/S | rs756756873 |
-0.948 | 0.042 | N | 0.386 | 0.067 | 0.17948927462 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/S | rs756756873 |
-0.948 | 0.042 | N | 0.386 | 0.067 | 0.17948927462 | 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/S | rs756756873 |
-0.948 | 0.042 | N | 0.386 | 0.067 | 0.17948927462 | gnomAD-4.0.0 | 3.09862E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.72957E-05 | 0 | 9.60646E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0672 | likely_benign | 0.0681 | benign | -1.084 | Destabilizing | 0.042 | N | 0.327 | neutral | N | 0.506718305 | None | None | N |
| T/C | 0.3003 | likely_benign | 0.2941 | benign | -0.586 | Destabilizing | 0.958 | D | 0.459 | neutral | None | None | None | None | N |
| T/D | 0.1694 | likely_benign | 0.1796 | benign | -0.366 | Destabilizing | 0.124 | N | 0.431 | neutral | None | None | None | None | N |
| T/E | 0.1405 | likely_benign | 0.1477 | benign | -0.385 | Destabilizing | 0.055 | N | 0.399 | neutral | None | None | None | None | N |
| T/F | 0.1419 | likely_benign | 0.1564 | benign | -1.385 | Destabilizing | 0.497 | N | 0.508 | neutral | None | None | None | None | N |
| T/G | 0.1842 | likely_benign | 0.1955 | benign | -1.299 | Destabilizing | 0.055 | N | 0.447 | neutral | None | None | None | None | N |
| T/H | 0.145 | likely_benign | 0.1476 | benign | -1.64 | Destabilizing | 0.497 | N | 0.501 | neutral | None | None | None | None | N |
| T/I | 0.0799 | likely_benign | 0.0872 | benign | -0.603 | Destabilizing | 0.124 | N | 0.455 | neutral | None | None | None | None | N |
| T/K | 0.1062 | likely_benign | 0.1131 | benign | -0.714 | Destabilizing | 0.001 | N | 0.217 | neutral | N | 0.474547171 | None | None | N |
| T/L | 0.0672 | likely_benign | 0.0718 | benign | -0.603 | Destabilizing | 0.055 | N | 0.4 | neutral | None | None | None | None | N |
| T/M | 0.0759 | likely_benign | 0.0796 | benign | -0.073 | Destabilizing | 0.895 | D | 0.475 | neutral | N | 0.509721325 | None | None | N |
| T/N | 0.0736 | likely_benign | 0.0737 | benign | -0.628 | Destabilizing | 0.001 | N | 0.197 | neutral | None | None | None | None | N |
| T/P | 0.0893 | likely_benign | 0.0898 | benign | -0.734 | Destabilizing | 0.301 | N | 0.484 | neutral | D | 0.525477424 | None | None | N |
| T/Q | 0.1173 | likely_benign | 0.1177 | benign | -0.893 | Destabilizing | 0.004 | N | 0.222 | neutral | None | None | None | None | N |
| T/R | 0.0943 | likely_benign | 0.1024 | benign | -0.431 | Destabilizing | 0.002 | N | 0.274 | neutral | N | 0.476723472 | None | None | N |
| T/S | 0.0824 | likely_benign | 0.0839 | benign | -0.933 | Destabilizing | 0.042 | N | 0.386 | neutral | N | 0.479435703 | None | None | N |
| T/V | 0.0812 | likely_benign | 0.0865 | benign | -0.734 | Destabilizing | 0.001 | N | 0.183 | neutral | None | None | None | None | N |
| T/W | 0.3628 | ambiguous | 0.3799 | ambiguous | -1.259 | Destabilizing | 0.958 | D | 0.535 | neutral | None | None | None | None | N |
| T/Y | 0.1603 | likely_benign | 0.1634 | benign | -1.029 | Destabilizing | 0.667 | D | 0.505 | 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.