Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26703 | 80332;80333;80334 | chr2:178566025;178566024;178566023 | chr2:179430752;179430751;179430750 |
| N2AB | 25062 | 75409;75410;75411 | chr2:178566025;178566024;178566023 | chr2:179430752;179430751;179430750 |
| N2A | 24135 | 72628;72629;72630 | chr2:178566025;178566024;178566023 | chr2:179430752;179430751;179430750 |
| N2B | 17638 | 53137;53138;53139 | chr2:178566025;178566024;178566023 | chr2:179430752;179430751;179430750 |
| Novex-1 | 17763 | 53512;53513;53514 | chr2:178566025;178566024;178566023 | chr2:179430752;179430751;179430750 |
| Novex-2 | 17830 | 53713;53714;53715 | chr2:178566025;178566024;178566023 | chr2:179430752;179430751;179430750 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs1288435749  |
0.075 | 0.015 | N | 0.337 | 0.065 | 0.274366138417 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1288435749 |
0.075 | 0.015 | N | 0.337 | 0.065 | 0.274366138417 | gnomAD-4.0.0 | 4.77584E-06 | None | None | None | None | N | None | 0 | 6.86153E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1029 | likely_benign | 0.091 | benign | -1.519 | Destabilizing | None | N | 0.177 | neutral | N | 0.37365974 | None | None | N |
| V/C | 0.4008 | ambiguous | 0.391 | ambiguous | -0.808 | Destabilizing | 0.667 | D | 0.511 | neutral | None | None | None | None | N |
| V/D | 0.3415 | ambiguous | 0.2901 | benign | -2.115 | Highly Destabilizing | 0.124 | N | 0.459 | neutral | None | None | None | None | N |
| V/E | 0.2738 | likely_benign | 0.2396 | benign | -1.897 | Destabilizing | 0.175 | N | 0.463 | neutral | N | 0.396149811 | None | None | N |
| V/F | 0.1109 | likely_benign | 0.1041 | benign | -0.899 | Destabilizing | 0.497 | N | 0.526 | neutral | None | None | None | None | N |
| V/G | 0.1658 | likely_benign | 0.1458 | benign | -2.026 | Highly Destabilizing | 0.042 | N | 0.405 | neutral | N | 0.425627356 | None | None | N |
| V/H | 0.3346 | likely_benign | 0.3029 | benign | -2.018 | Highly Destabilizing | 0.667 | D | 0.561 | neutral | None | None | None | None | N |
| V/I | 0.0643 | likely_benign | 0.0644 | benign | -0.116 | Destabilizing | 0.001 | N | 0.214 | neutral | N | 0.4190481 | None | None | N |
| V/K | 0.4072 | ambiguous | 0.3581 | ambiguous | -1.155 | Destabilizing | 0.22 | N | 0.455 | neutral | None | None | None | None | N |
| V/L | 0.1005 | likely_benign | 0.0941 | benign | -0.116 | Destabilizing | 0.015 | N | 0.337 | neutral | N | 0.388551835 | None | None | N |
| V/M | 0.0874 | likely_benign | 0.0838 | benign | -0.117 | Destabilizing | 0.497 | N | 0.485 | neutral | None | None | None | None | N |
| V/N | 0.1383 | likely_benign | 0.1273 | benign | -1.488 | Destabilizing | 0.004 | N | 0.483 | neutral | None | None | None | None | N |
| V/P | 0.9083 | likely_pathogenic | 0.884 | pathogenic | -0.557 | Destabilizing | 0.667 | D | 0.582 | neutral | None | None | None | None | N |
| V/Q | 0.2271 | likely_benign | 0.2065 | benign | -1.295 | Destabilizing | 0.667 | D | 0.577 | neutral | None | None | None | None | N |
| V/R | 0.3687 | ambiguous | 0.3096 | benign | -1.134 | Destabilizing | 0.497 | N | 0.588 | neutral | None | None | None | None | N |
| V/S | 0.0843 | likely_benign | 0.075 | benign | -2.019 | Highly Destabilizing | 0.004 | N | 0.429 | neutral | None | None | None | None | N |
| V/T | 0.0813 | likely_benign | 0.0798 | benign | -1.67 | Destabilizing | None | N | 0.167 | neutral | None | None | None | None | N |
| V/W | 0.6483 | likely_pathogenic | 0.6242 | pathogenic | -1.528 | Destabilizing | 0.958 | D | 0.615 | neutral | None | None | None | None | N |
| V/Y | 0.3324 | likely_benign | 0.3081 | benign | -1.033 | Destabilizing | 0.667 | D | 0.507 | 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.