Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30091 | 90496;90497;90498 | chr2:178552629;178552628;178552627 | chr2:179417356;179417355;179417354 |
| N2AB | 28450 | 85573;85574;85575 | chr2:178552629;178552628;178552627 | chr2:179417356;179417355;179417354 |
| N2A | 27523 | 82792;82793;82794 | chr2:178552629;178552628;178552627 | chr2:179417356;179417355;179417354 |
| N2B | 21026 | 63301;63302;63303 | chr2:178552629;178552628;178552627 | chr2:179417356;179417355;179417354 |
| Novex-1 | 21151 | 63676;63677;63678 | chr2:178552629;178552628;178552627 | chr2:179417356;179417355;179417354 |
| Novex-2 | 21218 | 63877;63878;63879 | chr2:178552629;178552628;178552627 | chr2:179417356;179417355;179417354 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | None | N | 0.073 | 0.079 | 0.144782658237 | gnomAD-4.0.0 | 3.1821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77377E-05 | None | 0 | 0 | 0 | 0 | 3.02334E-05 |
| S/R | rs1460814289  |
-0.144 | 0.033 | N | 0.477 | 0.08 | 0.20549828249 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/R | rs1460814289 |
-0.144 | 0.033 | N | 0.477 | 0.08 | 0.20549828249 | gnomAD-4.0.0 | 4.77324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57349E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0729 | likely_benign | 0.0769 | benign | -0.407 | Destabilizing | None | N | 0.08 | neutral | None | None | None | None | N |
| S/C | 0.0887 | likely_benign | 0.0856 | benign | -0.322 | Destabilizing | 0.427 | N | 0.427 | neutral | N | 0.481412098 | None | None | N |
| S/D | 0.1941 | likely_benign | 0.1794 | benign | 0.167 | Stabilizing | None | N | 0.083 | neutral | None | None | None | None | N |
| S/E | 0.265 | likely_benign | 0.2409 | benign | 0.065 | Stabilizing | None | N | 0.091 | neutral | None | None | None | None | N |
| S/F | 0.1859 | likely_benign | 0.1765 | benign | -1.04 | Destabilizing | 0.085 | N | 0.604 | neutral | None | None | None | None | N |
| S/G | 0.0592 | likely_benign | 0.0579 | benign | -0.497 | Destabilizing | None | N | 0.073 | neutral | N | 0.50328285 | None | None | N |
| S/H | 0.1719 | likely_benign | 0.1573 | benign | -0.992 | Destabilizing | 0.245 | N | 0.427 | neutral | None | None | None | None | N |
| S/I | 0.1076 | likely_benign | 0.1007 | benign | -0.302 | Destabilizing | 0.033 | N | 0.509 | neutral | N | 0.507573949 | None | None | N |
| S/K | 0.2521 | likely_benign | 0.2321 | benign | -0.443 | Destabilizing | 0.009 | N | 0.303 | neutral | None | None | None | None | N |
| S/L | 0.0931 | likely_benign | 0.0896 | benign | -0.302 | Destabilizing | 0.009 | N | 0.37 | neutral | None | None | None | None | N |
| S/M | 0.1555 | likely_benign | 0.1535 | benign | -0.031 | Destabilizing | 0.497 | N | 0.432 | neutral | None | None | None | None | N |
| S/N | 0.0721 | likely_benign | 0.0724 | benign | -0.178 | Destabilizing | 0.007 | N | 0.314 | neutral | N | 0.510419466 | None | None | N |
| S/P | 0.1054 | likely_benign | 0.102 | benign | -0.31 | Destabilizing | 0.037 | N | 0.467 | neutral | None | None | None | None | N |
| S/Q | 0.2358 | likely_benign | 0.2186 | benign | -0.451 | Destabilizing | 0.022 | N | 0.305 | neutral | None | None | None | None | N |
| S/R | 0.2472 | likely_benign | 0.2284 | benign | -0.225 | Destabilizing | 0.033 | N | 0.477 | neutral | N | 0.490660269 | None | None | N |
| S/T | 0.067 | likely_benign | 0.07 | benign | -0.31 | Destabilizing | None | N | 0.077 | neutral | N | 0.410561903 | None | None | N |
| S/V | 0.1196 | likely_benign | 0.1175 | benign | -0.31 | Destabilizing | 0.009 | N | 0.353 | neutral | None | None | None | None | N |
| S/W | 0.2986 | likely_benign | 0.2818 | benign | -1.031 | Destabilizing | 0.788 | D | 0.517 | neutral | None | None | None | None | N |
| S/Y | 0.1612 | likely_benign | 0.1502 | benign | -0.756 | Destabilizing | 0.497 | N | 0.593 | 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.