Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6686 | 20281;20282;20283 | chr2:178727309;178727308;178727307 | chr2:179592036;179592035;179592034 |
| N2AB | 6369 | 19330;19331;19332 | chr2:178727309;178727308;178727307 | chr2:179592036;179592035;179592034 |
| N2A | 5442 | 16549;16550;16551 | chr2:178727309;178727308;178727307 | chr2:179592036;179592035;179592034 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 0.981 | N | 0.547 | 0.32 | 0.322510055762 | gnomAD-4.0.0 | 6.84814E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99985E-07 | 0 | 0 |
| R/Q | rs202022304  |
-0.249 | 0.624 | N | 0.449 | 0.236 | None | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| R/Q | rs202022304 |
-0.249 | 0.624 | N | 0.449 | 0.236 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/Q | rs202022304 |
-0.249 | 0.624 | N | 0.449 | 0.236 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/Q | rs202022304 |
-0.249 | 0.624 | N | 0.449 | 0.236 | None | gnomAD-4.0.0 | 1.36438E-05 | None | None | None | None | N | None | 8.00384E-05 | 0 | None | 0 | 0 | None | 1.56436E-05 | 0 | 1.10251E-05 | 0 | 3.204E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2896 | likely_benign | 0.3096 | benign | -0.471 | Destabilizing | 0.849 | D | 0.575 | neutral | None | None | None | None | N |
| R/C | 0.1676 | likely_benign | 0.1689 | benign | -0.538 | Destabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | N |
| R/D | 0.5235 | ambiguous | 0.5433 | ambiguous | 0.005 | Stabilizing | 0.872 | D | 0.542 | neutral | None | None | None | None | N |
| R/E | 0.2476 | likely_benign | 0.2697 | benign | 0.12 | Stabilizing | 0.052 | N | 0.343 | neutral | None | None | None | None | N |
| R/F | 0.3269 | likely_benign | 0.3474 | ambiguous | -0.352 | Destabilizing | 0.992 | D | 0.612 | neutral | None | None | None | None | N |
| R/G | 0.2519 | likely_benign | 0.2631 | benign | -0.76 | Destabilizing | 0.981 | D | 0.547 | neutral | N | 0.485988822 | None | None | N |
| R/H | 0.0779 | likely_benign | 0.0796 | benign | -1.107 | Destabilizing | 0.976 | D | 0.599 | neutral | None | None | None | None | N |
| R/I | 0.1461 | likely_benign | 0.1523 | benign | 0.291 | Stabilizing | 0.992 | D | 0.62 | neutral | None | None | None | None | N |
| R/K | 0.1075 | likely_benign | 0.1039 | benign | -0.547 | Destabilizing | 0.021 | N | 0.32 | neutral | None | None | None | None | N |
| R/L | 0.1467 | likely_benign | 0.1607 | benign | 0.291 | Stabilizing | 0.915 | D | 0.549 | neutral | N | 0.497265663 | None | None | N |
| R/M | 0.1939 | likely_benign | 0.2024 | benign | -0.171 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| R/N | 0.4067 | ambiguous | 0.4315 | ambiguous | -0.144 | Destabilizing | 0.965 | D | 0.571 | neutral | None | None | None | None | N |
| R/P | 0.7825 | likely_pathogenic | 0.7779 | pathogenic | 0.059 | Stabilizing | 0.998 | D | 0.59 | neutral | N | 0.497345127 | None | None | N |
| R/Q | 0.0841 | likely_benign | 0.087 | benign | -0.256 | Destabilizing | 0.624 | D | 0.449 | neutral | N | 0.448474425 | None | None | N |
| R/S | 0.2941 | likely_benign | 0.324 | benign | -0.764 | Destabilizing | 0.931 | D | 0.561 | neutral | None | None | None | None | N |
| R/T | 0.1337 | likely_benign | 0.146 | benign | -0.477 | Destabilizing | 0.965 | D | 0.553 | neutral | None | None | None | None | N |
| R/V | 0.1874 | likely_benign | 0.1988 | benign | 0.059 | Stabilizing | 0.967 | D | 0.598 | neutral | None | None | None | None | N |
| R/W | 0.1274 | likely_benign | 0.1352 | benign | -0.123 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| R/Y | 0.2439 | likely_benign | 0.2526 | benign | 0.193 | Stabilizing | 0.992 | D | 0.605 | 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.