Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5733 | 17422;17423;17424 | chr2:178731569;178731568;178731567 | chr2:179596296;179596295;179596294 |
| N2AB | 5416 | 16471;16472;16473 | chr2:178731569;178731568;178731567 | chr2:179596296;179596295;179596294 |
| N2A | 4489 | 13690;13691;13692 | chr2:178731569;178731568;178731567 | chr2:179596296;179596295;179596294 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1161139503  |
-0.36 | 0.033 | N | 0.254 | 0.026 | 0.101711395817 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.11E-06 | 0 |
| I/M | rs1161139503 |
-0.36 | 0.033 | N | 0.254 | 0.026 | 0.101711395817 | 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 |
| I/M | rs1161139503 |
-0.36 | 0.033 | N | 0.254 | 0.026 | 0.101711395817 | gnomAD-4.0.0 | 4.3621E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.95974E-06 | 0 | 0 |
| I/V | rs2080510876 |
None | None | N | 0.029 | 0.06 | 0.148003135375 | gnomAD-4.0.0 | 3.22961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9025E-06 | 1.45484E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.159 | likely_benign | 0.1463 | benign | -0.881 | Destabilizing | 0.002 | N | 0.151 | neutral | None | None | None | None | N |
| I/C | 0.4689 | ambiguous | 0.4675 | ambiguous | -0.692 | Destabilizing | 0.245 | N | 0.247 | neutral | None | None | None | None | N |
| I/D | 0.3758 | ambiguous | 0.3421 | ambiguous | 0.045 | Stabilizing | 0.044 | N | 0.336 | neutral | None | None | None | None | N |
| I/E | 0.2639 | likely_benign | 0.2448 | benign | -0.001 | Destabilizing | 0.018 | N | 0.251 | neutral | None | None | None | None | N |
| I/F | 0.1128 | likely_benign | 0.1156 | benign | -0.598 | Destabilizing | 0.044 | N | 0.171 | neutral | None | None | None | None | N |
| I/G | 0.3174 | likely_benign | 0.2926 | benign | -1.11 | Destabilizing | 0.018 | N | 0.258 | neutral | None | None | None | None | N |
| I/H | 0.2575 | likely_benign | 0.2568 | benign | -0.223 | Destabilizing | 0.497 | N | 0.309 | neutral | None | None | None | None | N |
| I/K | 0.2233 | likely_benign | 0.2115 | benign | -0.453 | Destabilizing | 0.014 | N | 0.243 | neutral | N | 0.474140874 | None | None | N |
| I/L | 0.0794 | likely_benign | 0.0787 | benign | -0.375 | Destabilizing | None | N | 0.049 | neutral | N | 0.415380572 | None | None | N |
| I/M | 0.0848 | likely_benign | 0.0827 | benign | -0.418 | Destabilizing | 0.033 | N | 0.254 | neutral | N | 0.474314232 | None | None | N |
| I/N | 0.1278 | likely_benign | 0.1262 | benign | -0.296 | Destabilizing | 0.044 | N | 0.393 | neutral | None | None | None | None | N |
| I/P | 0.5182 | ambiguous | 0.5121 | ambiguous | -0.51 | Destabilizing | None | N | 0.131 | neutral | None | None | None | None | N |
| I/Q | 0.1858 | likely_benign | 0.175 | benign | -0.462 | Destabilizing | 0.085 | N | 0.415 | neutral | None | None | None | None | N |
| I/R | 0.1631 | likely_benign | 0.1571 | benign | 0.086 | Stabilizing | 0.065 | N | 0.429 | neutral | N | 0.480066768 | None | None | N |
| I/S | 0.1194 | likely_benign | 0.1145 | benign | -0.887 | Destabilizing | 0.009 | N | 0.195 | neutral | None | None | None | None | N |
| I/T | 0.0905 | likely_benign | 0.0842 | benign | -0.816 | Destabilizing | None | N | 0.063 | neutral | N | 0.416420722 | None | None | N |
| I/V | 0.0655 | likely_benign | 0.061 | benign | -0.51 | Destabilizing | None | N | 0.029 | neutral | N | 0.381267998 | None | None | N |
| I/W | 0.5494 | ambiguous | 0.5639 | ambiguous | -0.609 | Destabilizing | 0.788 | D | 0.306 | neutral | None | None | None | None | N |
| I/Y | 0.303 | likely_benign | 0.3016 | benign | -0.378 | Destabilizing | 0.085 | N | 0.337 | 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.