Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23593 | 71002;71003;71004 | chr2:178575355;178575354;178575353 | chr2:179440082;179440081;179440080 |
| N2AB | 21952 | 66079;66080;66081 | chr2:178575355;178575354;178575353 | chr2:179440082;179440081;179440080 |
| N2A | 21025 | 63298;63299;63300 | chr2:178575355;178575354;178575353 | chr2:179440082;179440081;179440080 |
| N2B | 14528 | 43807;43808;43809 | chr2:178575355;178575354;178575353 | chr2:179440082;179440081;179440080 |
| Novex-1 | 14653 | 44182;44183;44184 | chr2:178575355;178575354;178575353 | chr2:179440082;179440081;179440080 |
| Novex-2 | 14720 | 44383;44384;44385 | chr2:178575355;178575354;178575353 | chr2:179440082;179440081;179440080 |
| 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 | rs930124570  |
-0.479 | 0.024 | N | 0.394 | 0.135 | 0.360163838653 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.26E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs930124570 |
-0.479 | 0.024 | N | 0.394 | 0.135 | 0.360163838653 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs930124570 |
-0.479 | 0.024 | N | 0.394 | 0.135 | 0.360163838653 | gnomAD-4.0.0 | 3.84434E-06 | None | None | None | None | N | None | 5.07288E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | None | None | None | N | 0.099 | 0.119 | 0.110078149338 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2022 | likely_benign | 0.2056 | benign | -0.217 | Destabilizing | 0.007 | N | 0.248 | neutral | None | None | None | None | N |
| R/C | 0.2057 | likely_benign | 0.2004 | benign | -0.314 | Destabilizing | 0.864 | D | 0.41 | neutral | None | None | None | None | N |
| R/D | 0.3429 | ambiguous | 0.3519 | ambiguous | 0.006 | Stabilizing | 0.072 | N | 0.461 | neutral | None | None | None | None | N |
| R/E | 0.1612 | likely_benign | 0.1724 | benign | 0.075 | Stabilizing | 0.016 | N | 0.285 | neutral | None | None | None | None | N |
| R/F | 0.5124 | ambiguous | 0.5027 | ambiguous | -0.408 | Destabilizing | 0.356 | N | 0.437 | neutral | None | None | None | None | N |
| R/G | 0.1122 | likely_benign | 0.106 | benign | -0.427 | Destabilizing | 0.024 | N | 0.394 | neutral | N | 0.4460427 | None | None | N |
| R/H | 0.1043 | likely_benign | 0.1022 | benign | -0.825 | Destabilizing | 0.356 | N | 0.442 | neutral | None | None | None | None | N |
| R/I | 0.2482 | likely_benign | 0.2423 | benign | 0.305 | Stabilizing | 0.072 | N | 0.52 | neutral | None | None | None | None | N |
| R/K | 0.0555 | likely_benign | 0.0584 | benign | -0.23 | Destabilizing | None | N | 0.099 | neutral | N | 0.38252994 | None | None | N |
| R/L | 0.1958 | likely_benign | 0.192 | benign | 0.305 | Stabilizing | 0.016 | N | 0.355 | neutral | None | None | None | None | N |
| R/M | 0.1846 | likely_benign | 0.1811 | benign | -0.045 | Destabilizing | 0.56 | D | 0.446 | neutral | N | 0.481232709 | None | None | N |
| R/N | 0.2458 | likely_benign | 0.2537 | benign | 0.082 | Stabilizing | 0.031 | N | 0.337 | neutral | None | None | None | None | N |
| R/P | 0.2768 | likely_benign | 0.2769 | benign | 0.151 | Stabilizing | 0.136 | N | 0.517 | neutral | None | None | None | None | N |
| R/Q | 0.0774 | likely_benign | 0.0778 | benign | -0.072 | Destabilizing | 0.038 | N | 0.379 | neutral | None | None | None | None | N |
| R/S | 0.2019 | likely_benign | 0.1984 | benign | -0.412 | Destabilizing | 0.012 | N | 0.293 | neutral | N | 0.372139588 | None | None | N |
| R/T | 0.1025 | likely_benign | 0.1031 | benign | -0.201 | Destabilizing | None | N | 0.188 | neutral | N | 0.346683783 | None | None | N |
| R/V | 0.2555 | likely_benign | 0.2579 | benign | 0.151 | Stabilizing | 0.016 | N | 0.406 | neutral | None | None | None | None | N |
| R/W | 0.1976 | likely_benign | 0.1869 | benign | -0.363 | Destabilizing | 0.828 | D | 0.413 | neutral | N | 0.469255644 | None | None | N |
| R/Y | 0.3336 | likely_benign | 0.3296 | benign | 0.028 | Stabilizing | 0.356 | N | 0.465 | 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.