Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2098 | 6517;6518;6519 | chr2:178775572;178775571;178775570 | chr2:179640299;179640298;179640297 |
| N2AB | 2098 | 6517;6518;6519 | chr2:178775572;178775571;178775570 | chr2:179640299;179640298;179640297 |
| N2A | 2098 | 6517;6518;6519 | chr2:178775572;178775571;178775570 | chr2:179640299;179640298;179640297 |
| N2B | 2052 | 6379;6380;6381 | chr2:178775572;178775571;178775570 | chr2:179640299;179640298;179640297 |
| Novex-1 | 2052 | 6379;6380;6381 | chr2:178775572;178775571;178775570 | chr2:179640299;179640298;179640297 |
| Novex-2 | 2052 | 6379;6380;6381 | chr2:178775572;178775571;178775570 | chr2:179640299;179640298;179640297 |
| Novex-3 | 2098 | 6517;6518;6519 | chr2:178775572;178775571;178775570 | chr2:179640299;179640298;179640297 |
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 | rs763722868  |
-1.444 | 1.0 | D | 0.729 | 0.585 | 0.718442522405 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | I | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs763722868 |
-1.444 | 1.0 | D | 0.729 | 0.585 | 0.718442522405 | gnomAD-4.0.0 | 2.05228E-06 | None | None | None | None | I | None | 0 | 6.71051E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs565791174 |
-0.494 | 1.0 | N | 0.705 | 0.429 | 0.434272847907 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.65E-05 | 0 |
| R/Q | rs565791174 |
-0.494 | 1.0 | N | 0.705 | 0.429 | 0.434272847907 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs565791174 |
-0.494 | 1.0 | N | 0.705 | 0.429 | 0.434272847907 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/Q | rs565791174 |
-0.494 | 1.0 | N | 0.705 | 0.429 | 0.434272847907 | gnomAD-4.0.0 | 1.30108E-05 | None | None | None | None | I | None | 1.33259E-05 | 0 | None | 0 | 8.91981E-05 | None | 0 | 0 | 1.35595E-05 | 0 | 0 |
| R/W | rs763722868 |
-0.185 | 1.0 | D | 0.745 | 0.59 | 0.643776053401 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | I | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/W | rs763722868 |
-0.185 | 1.0 | D | 0.745 | 0.59 | 0.643776053401 | gnomAD-4.0.0 | 1.16296E-05 | None | None | None | None | I | None | 1.19496E-04 | 6.71051E-05 | None | 0 | 0 | None | 1.87231E-05 | 0 | 7.1944E-06 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9035 | likely_pathogenic | 0.8921 | pathogenic | -1.034 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | I |
| R/C | 0.5237 | ambiguous | 0.5218 | ambiguous | -0.997 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| R/D | 0.9761 | likely_pathogenic | 0.9752 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| R/E | 0.8679 | likely_pathogenic | 0.8505 | pathogenic | -0.031 | Destabilizing | 0.999 | D | 0.588 | neutral | None | None | None | None | I |
| R/F | 0.9123 | likely_pathogenic | 0.9019 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| R/G | 0.8746 | likely_pathogenic | 0.877 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.572959799 | None | None | I |
| R/H | 0.1796 | likely_benign | 0.1815 | benign | -1.541 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| R/I | 0.809 | likely_pathogenic | 0.763 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| R/K | 0.2918 | likely_benign | 0.2617 | benign | -1.042 | Destabilizing | 0.998 | D | 0.472 | neutral | None | None | None | None | I |
| R/L | 0.7006 | likely_pathogenic | 0.6869 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.505469164 | None | None | I |
| R/M | 0.8499 | likely_pathogenic | 0.8228 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| R/N | 0.9326 | likely_pathogenic | 0.9262 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| R/P | 0.9837 | likely_pathogenic | 0.9872 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.50518827 | None | None | I |
| R/Q | 0.2715 | likely_benign | 0.2681 | benign | -0.653 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.491919099 | None | None | I |
| R/S | 0.8994 | likely_pathogenic | 0.894 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| R/T | 0.7841 | likely_pathogenic | 0.7483 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| R/V | 0.8313 | likely_pathogenic | 0.7959 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| R/W | 0.5614 | ambiguous | 0.5754 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.591898832 | None | None | I |
| R/Y | 0.8214 | likely_pathogenic | 0.8097 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.771 | deleterious | 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.