Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25606 | 77041;77042;77043 | chr2:178569316;178569315;178569314 | chr2:179434043;179434042;179434041 |
| N2AB | 23965 | 72118;72119;72120 | chr2:178569316;178569315;178569314 | chr2:179434043;179434042;179434041 |
| N2A | 23038 | 69337;69338;69339 | chr2:178569316;178569315;178569314 | chr2:179434043;179434042;179434041 |
| N2B | 16541 | 49846;49847;49848 | chr2:178569316;178569315;178569314 | chr2:179434043;179434042;179434041 |
| Novex-1 | 16666 | 50221;50222;50223 | chr2:178569316;178569315;178569314 | chr2:179434043;179434042;179434041 |
| Novex-2 | 16733 | 50422;50423;50424 | chr2:178569316;178569315;178569314 | chr2:179434043;179434042;179434041 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1343757002  |
None | None | N | 0.082 | 0.059 | 0.208000267992 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1343757002 |
None | None | N | 0.082 | 0.059 | 0.208000267992 | gnomAD-4.0.0 | 1.31465E-05 | None | None | None | None | N | None | 4.82509E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs794729501 |
-0.745 | None | N | 0.121 | 0.051 | 0.234412748748 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs794729501 |
-0.745 | None | N | 0.121 | 0.051 | 0.234412748748 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs794729501 |
-0.745 | None | N | 0.121 | 0.051 | 0.234412748748 | gnomAD-4.0.0 | 7.44128E-06 | None | None | None | None | N | None | 1.06852E-04 | 1.6695E-05 | None | 0 | 2.22936E-05 | None | 0 | 0 | 1.69604E-06 | 0 | 0 |
| V/L | rs794729501 |
-0.749 | 0.002 | N | 0.313 | 0.04 | 0.110078149338 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| V/L | rs794729501 |
-0.749 | 0.002 | N | 0.313 | 0.04 | 0.110078149338 | gnomAD-4.0.0 | 6.84686E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16239E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1131 | likely_benign | 0.1318 | benign | -1.615 | Destabilizing | None | N | 0.082 | neutral | N | 0.434612198 | None | None | N |
| V/C | 0.5256 | ambiguous | 0.5823 | pathogenic | -0.855 | Destabilizing | 0.628 | D | 0.449 | neutral | None | None | None | None | N |
| V/D | 0.2958 | likely_benign | 0.359 | ambiguous | -1.868 | Destabilizing | 0.029 | N | 0.554 | neutral | N | 0.480557919 | None | None | N |
| V/E | 0.1876 | likely_benign | 0.2321 | benign | -1.874 | Destabilizing | 0.001 | N | 0.421 | neutral | None | None | None | None | N |
| V/F | 0.1626 | likely_benign | 0.1823 | benign | -1.293 | Destabilizing | 0.029 | N | 0.481 | neutral | N | 0.517825441 | None | None | N |
| V/G | 0.1377 | likely_benign | 0.1566 | benign | -1.923 | Destabilizing | 0.029 | N | 0.531 | neutral | N | 0.410580546 | None | None | N |
| V/H | 0.4303 | ambiguous | 0.4903 | ambiguous | -1.583 | Destabilizing | 0.214 | N | 0.519 | neutral | None | None | None | None | N |
| V/I | 0.0699 | likely_benign | 0.0713 | benign | -0.859 | Destabilizing | None | N | 0.121 | neutral | N | 0.492487066 | None | None | N |
| V/K | 0.2428 | likely_benign | 0.2881 | benign | -1.521 | Destabilizing | 0.072 | N | 0.531 | neutral | None | None | None | None | N |
| V/L | 0.1025 | likely_benign | 0.1119 | benign | -0.859 | Destabilizing | 0.002 | N | 0.313 | neutral | N | 0.435862992 | None | None | N |
| V/M | 0.0947 | likely_benign | 0.1056 | benign | -0.481 | Destabilizing | 0.214 | N | 0.426 | neutral | None | None | None | None | N |
| V/N | 0.1874 | likely_benign | 0.2206 | benign | -1.255 | Destabilizing | 0.072 | N | 0.557 | neutral | None | None | None | None | N |
| V/P | 0.7096 | likely_pathogenic | 0.7561 | pathogenic | -1.079 | Destabilizing | 0.356 | N | 0.513 | neutral | None | None | None | None | N |
| V/Q | 0.1813 | likely_benign | 0.2132 | benign | -1.448 | Destabilizing | 0.214 | N | 0.507 | neutral | None | None | None | None | N |
| V/R | 0.2184 | likely_benign | 0.262 | benign | -0.909 | Destabilizing | 0.214 | N | 0.541 | neutral | None | None | None | None | N |
| V/S | 0.1334 | likely_benign | 0.1551 | benign | -1.659 | Destabilizing | 0.003 | N | 0.347 | neutral | None | None | None | None | N |
| V/T | 0.115 | likely_benign | 0.1293 | benign | -1.575 | Destabilizing | 0.001 | N | 0.176 | neutral | None | None | None | None | N |
| V/W | 0.7403 | likely_pathogenic | 0.7891 | pathogenic | -1.551 | Destabilizing | 0.676 | D | 0.523 | neutral | None | None | None | None | N |
| V/Y | 0.4283 | ambiguous | 0.4868 | ambiguous | -1.293 | Destabilizing | 0.001 | N | 0.324 | 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.