Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27601 | 83026;83027;83028 | chr2:178563331;178563330;178563329 | chr2:179428058;179428057;179428056 |
| N2AB | 25960 | 78103;78104;78105 | chr2:178563331;178563330;178563329 | chr2:179428058;179428057;179428056 |
| N2A | 25033 | 75322;75323;75324 | chr2:178563331;178563330;178563329 | chr2:179428058;179428057;179428056 |
| N2B | 18536 | 55831;55832;55833 | chr2:178563331;178563330;178563329 | chr2:179428058;179428057;179428056 |
| Novex-1 | 18661 | 56206;56207;56208 | chr2:178563331;178563330;178563329 | chr2:179428058;179428057;179428056 |
| Novex-2 | 18728 | 56407;56408;56409 | chr2:178563331;178563330;178563329 | chr2:179428058;179428057;179428056 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs1268002707  |
-0.142 | 0.966 | N | 0.437 | 0.355 | 0.396345573744 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65837E-04 |
| P/H | rs1268002707 |
-0.142 | 0.966 | N | 0.437 | 0.355 | 0.396345573744 | gnomAD-4.0.0 | 1.59161E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02462E-05 |
| P/S | None | None | 0.136 | N | 0.147 | 0.212 | 0.20549828249 | gnomAD-4.0.0 | 1.5916E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85865E-06 | 0 | 0 |
| P/T | None | None | 0.801 | N | 0.346 | 0.316 | 0.276065633971 | gnomAD-4.0.0 | 3.18319E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.7784E-05 | None | 0 | 0 | 2.85865E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0565 | likely_benign | 0.0659 | benign | -0.432 | Destabilizing | 0.454 | N | 0.37 | neutral | N | 0.497164954 | None | None | I |
| P/C | 0.412 | ambiguous | 0.4713 | ambiguous | -0.533 | Destabilizing | 0.998 | D | 0.427 | neutral | None | None | None | None | I |
| P/D | 0.273 | likely_benign | 0.2988 | benign | -0.338 | Destabilizing | 0.016 | N | 0.134 | neutral | None | None | None | None | I |
| P/E | 0.1746 | likely_benign | 0.1822 | benign | -0.468 | Destabilizing | 0.525 | D | 0.359 | neutral | None | None | None | None | I |
| P/F | 0.3893 | ambiguous | 0.4539 | ambiguous | -0.757 | Destabilizing | 0.991 | D | 0.451 | neutral | None | None | None | None | I |
| P/G | 0.2574 | likely_benign | 0.2856 | benign | -0.547 | Destabilizing | 0.688 | D | 0.413 | neutral | None | None | None | None | I |
| P/H | 0.1788 | likely_benign | 0.2026 | benign | -0.164 | Destabilizing | 0.966 | D | 0.437 | neutral | N | 0.491389278 | None | None | I |
| P/I | 0.2009 | likely_benign | 0.2451 | benign | -0.284 | Destabilizing | 0.974 | D | 0.469 | neutral | None | None | None | None | I |
| P/K | 0.2455 | likely_benign | 0.2526 | benign | -0.349 | Destabilizing | 0.728 | D | 0.345 | neutral | None | None | None | None | I |
| P/L | 0.0909 | likely_benign | 0.1106 | benign | -0.284 | Destabilizing | 0.801 | D | 0.464 | neutral | N | 0.498733112 | None | None | I |
| P/M | 0.1881 | likely_benign | 0.2268 | benign | -0.257 | Destabilizing | 0.998 | D | 0.427 | neutral | None | None | None | None | I |
| P/N | 0.2143 | likely_benign | 0.2539 | benign | -0.05 | Destabilizing | 0.067 | N | 0.297 | neutral | None | None | None | None | I |
| P/Q | 0.1224 | likely_benign | 0.1389 | benign | -0.337 | Destabilizing | 0.067 | N | 0.231 | neutral | None | None | None | None | I |
| P/R | 0.1947 | likely_benign | 0.1958 | benign | 0.19 | Stabilizing | 0.876 | D | 0.427 | neutral | N | 0.475260033 | None | None | I |
| P/S | 0.0989 | likely_benign | 0.1164 | benign | -0.388 | Destabilizing | 0.136 | N | 0.147 | neutral | N | 0.47020715 | None | None | I |
| P/T | 0.0792 | likely_benign | 0.0915 | benign | -0.422 | Destabilizing | 0.801 | D | 0.346 | neutral | N | 0.477208589 | None | None | I |
| P/V | 0.1267 | likely_benign | 0.1524 | benign | -0.298 | Destabilizing | 0.915 | D | 0.415 | neutral | None | None | None | None | I |
| P/W | 0.5258 | ambiguous | 0.5694 | pathogenic | -0.823 | Destabilizing | 0.998 | D | 0.541 | neutral | None | None | None | None | I |
| P/Y | 0.3622 | ambiguous | 0.407 | ambiguous | -0.512 | Destabilizing | 0.991 | D | 0.455 | neutral | None | None | None | None | I |
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.