Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26865 | 80818;80819;80820 | chr2:178565539;178565538;178565537 | chr2:179430266;179430265;179430264 |
| N2AB | 25224 | 75895;75896;75897 | chr2:178565539;178565538;178565537 | chr2:179430266;179430265;179430264 |
| N2A | 24297 | 73114;73115;73116 | chr2:178565539;178565538;178565537 | chr2:179430266;179430265;179430264 |
| N2B | 17800 | 53623;53624;53625 | chr2:178565539;178565538;178565537 | chr2:179430266;179430265;179430264 |
| Novex-1 | 17925 | 53998;53999;54000 | chr2:178565539;178565538;178565537 | chr2:179430266;179430265;179430264 |
| Novex-2 | 17992 | 54199;54200;54201 | chr2:178565539;178565538;178565537 | chr2:179430266;179430265;179430264 |
| 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/K | rs1471370920  |
-0.694 | 0.994 | N | 0.585 | 0.285 | 0.42805410278 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/K | rs1471370920 |
-0.694 | 0.994 | N | 0.585 | 0.285 | 0.42805410278 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | rs1471370920 |
-0.694 | 0.994 | N | 0.585 | 0.285 | 0.42805410278 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | I | None | 2.41383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs878865997 |
None | 1.0 | N | 0.786 | 0.39 | 0.24896430686 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/S | rs878865997 |
None | 1.0 | N | 0.786 | 0.39 | 0.24896430686 | gnomAD-4.0.0 | 1.23958E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69545E-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 | 0.5508 | ambiguous | 0.5547 | ambiguous | -0.834 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| R/C | 0.2612 | likely_benign | 0.2499 | benign | -0.851 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| R/D | 0.9221 | likely_pathogenic | 0.9254 | pathogenic | -0.018 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| R/E | 0.6631 | likely_pathogenic | 0.6824 | pathogenic | 0.149 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | I |
| R/F | 0.8235 | likely_pathogenic | 0.8153 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| R/G | 0.5636 | ambiguous | 0.5629 | ambiguous | -1.191 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.504309931 | None | None | I |
| R/H | 0.2326 | likely_benign | 0.2334 | benign | -1.372 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| R/I | 0.5368 | ambiguous | 0.5049 | ambiguous | 0.147 | Stabilizing | 1.0 | D | 0.789 | deleterious | D | 0.523242408 | None | None | I |
| R/K | 0.1753 | likely_benign | 0.1771 | benign | -0.823 | Destabilizing | 0.994 | D | 0.585 | neutral | N | 0.49101256 | None | None | I |
| R/L | 0.534 | ambiguous | 0.5188 | ambiguous | 0.147 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| R/M | 0.4927 | ambiguous | 0.4914 | ambiguous | -0.373 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| R/N | 0.8524 | likely_pathogenic | 0.8573 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| R/P | 0.9613 | likely_pathogenic | 0.959 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| R/Q | 0.1637 | likely_benign | 0.1684 | benign | -0.462 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| R/S | 0.7017 | likely_pathogenic | 0.7017 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.398353115 | None | None | I |
| R/T | 0.455 | ambiguous | 0.4469 | ambiguous | -0.842 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.481971789 | None | None | I |
| R/V | 0.502 | ambiguous | 0.4838 | ambiguous | -0.16 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| R/W | 0.438 | ambiguous | 0.4375 | ambiguous | 0.026 | Stabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| R/Y | 0.6954 | likely_pathogenic | 0.7017 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.796 | 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.