Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8967 | 27124;27125;27126 | chr2:178713235;178713234;178713233 | chr2:179577962;179577961;179577960 |
| N2AB | 8650 | 26173;26174;26175 | chr2:178713235;178713234;178713233 | chr2:179577962;179577961;179577960 |
| N2A | 7723 | 23392;23393;23394 | chr2:178713235;178713234;178713233 | chr2:179577962;179577961;179577960 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1046768266  |
None | 0.936 | N | 0.371 | 0.294 | 0.481468437379 | 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 |
| S/C | rs1046768266 |
None | 0.936 | N | 0.371 | 0.294 | 0.481468437379 | gnomAD-4.0.0 | 3.84552E-06 | None | None | None | None | N | None | 5.07563E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | 0.351 | N | 0.229 | 0.067 | 0.180583059064 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/T | rs1399004150 |
0.055 | 0.001 | N | 0.139 | 0.062 | 0.15556083564 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0681 | likely_benign | 0.0679 | benign | -0.237 | Destabilizing | 0.061 | N | 0.183 | neutral | None | None | None | None | N |
| S/C | 0.0971 | likely_benign | 0.1108 | benign | -0.393 | Destabilizing | 0.936 | D | 0.371 | neutral | N | 0.489317315 | None | None | N |
| S/D | 0.2202 | likely_benign | 0.2565 | benign | 0.259 | Stabilizing | 0.418 | N | 0.199 | neutral | None | None | None | None | N |
| S/E | 0.2615 | likely_benign | 0.2936 | benign | 0.161 | Stabilizing | 0.129 | N | 0.23 | neutral | None | None | None | None | N |
| S/F | 0.1047 | likely_benign | 0.1091 | benign | -0.987 | Destabilizing | 0.557 | D | 0.416 | neutral | None | None | None | None | N |
| S/G | 0.09 | likely_benign | 0.0867 | benign | -0.293 | Destabilizing | 0.183 | N | 0.219 | neutral | N | 0.493194434 | None | None | N |
| S/H | 0.1653 | likely_benign | 0.1835 | benign | -0.679 | Destabilizing | 0.716 | D | 0.378 | neutral | None | None | None | None | N |
| S/I | 0.0844 | likely_benign | 0.0816 | benign | -0.222 | Destabilizing | 0.213 | N | 0.399 | neutral | N | 0.457985782 | None | None | N |
| S/K | 0.2764 | likely_benign | 0.32 | benign | -0.305 | Destabilizing | 0.01 | N | 0.215 | neutral | None | None | None | None | N |
| S/L | 0.0716 | likely_benign | 0.0735 | benign | -0.222 | Destabilizing | 0.129 | N | 0.408 | neutral | None | None | None | None | N |
| S/M | 0.1483 | likely_benign | 0.1418 | benign | -0.205 | Destabilizing | 0.836 | D | 0.379 | neutral | None | None | None | None | N |
| S/N | 0.0999 | likely_benign | 0.1059 | benign | -0.135 | Destabilizing | 0.351 | N | 0.229 | neutral | N | 0.483206727 | None | None | N |
| S/P | 0.0952 | likely_benign | 0.1184 | benign | -0.202 | Destabilizing | 0.593 | D | 0.394 | neutral | None | None | None | None | N |
| S/Q | 0.2471 | likely_benign | 0.2796 | benign | -0.314 | Destabilizing | 0.027 | N | 0.195 | neutral | None | None | None | None | N |
| S/R | 0.2138 | likely_benign | 0.243 | benign | -0.131 | Destabilizing | 0.213 | N | 0.367 | neutral | N | 0.473048448 | None | None | N |
| S/T | 0.0652 | likely_benign | 0.0629 | benign | -0.226 | Destabilizing | 0.001 | N | 0.139 | neutral | N | 0.436666361 | None | None | N |
| S/V | 0.0977 | likely_benign | 0.0925 | benign | -0.202 | Destabilizing | 0.002 | N | 0.261 | neutral | None | None | None | None | N |
| S/W | 0.1954 | likely_benign | 0.2219 | benign | -1.063 | Destabilizing | 0.951 | D | 0.397 | neutral | None | None | None | None | N |
| S/Y | 0.1065 | likely_benign | 0.1191 | benign | -0.735 | Destabilizing | 0.01 | N | 0.264 | 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.