Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32742 | 98449;98450;98451 | chr2:178539841;178539840;178539839 | chr2:179404568;179404567;179404566 |
| N2AB | 31101 | 93526;93527;93528 | chr2:178539841;178539840;178539839 | chr2:179404568;179404567;179404566 |
| N2A | 30174 | 90745;90746;90747 | chr2:178539841;178539840;178539839 | chr2:179404568;179404567;179404566 |
| N2B | 23677 | 71254;71255;71256 | chr2:178539841;178539840;178539839 | chr2:179404568;179404567;179404566 |
| Novex-1 | 23802 | 71629;71630;71631 | chr2:178539841;178539840;178539839 | chr2:179404568;179404567;179404566 |
| Novex-2 | 23869 | 71830;71831;71832 | chr2:178539841;178539840;178539839 | chr2:179404568;179404567;179404566 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs201850303  |
-0.748 | 1.0 | N | 0.653 | 0.388 | None | gnomAD-2.1.1 | 4.28E-05 | None | None | None | None | N | None | 4.95868E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs201850303 |
-0.748 | 1.0 | N | 0.653 | 0.388 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 2.6547E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs201850303 |
-0.748 | 1.0 | N | 0.653 | 0.388 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/D | rs201850303 |
-0.748 | 1.0 | N | 0.653 | 0.388 | None | gnomAD-4.0.0 | 1.85893E-05 | None | None | None | None | N | None | 3.86502E-04 | 0 | None | 0 | 0 | None | 1.5623E-05 | 0 | 0 | 0 | 0 |
| G/V | None | None | 1.0 | N | 0.697 | 0.482 | 0.584612320503 | gnomAD-4.0.0 | 6.84201E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3883 | ambiguous | 0.452 | ambiguous | -0.22 | Destabilizing | 1.0 | D | 0.587 | neutral | N | 0.493774999 | None | None | N |
| G/C | 0.4561 | ambiguous | 0.5237 | ambiguous | -0.813 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.517501568 | None | None | N |
| G/D | 0.3512 | ambiguous | 0.4328 | ambiguous | -0.798 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.49565787 | None | None | N |
| G/E | 0.3894 | ambiguous | 0.4811 | ambiguous | -0.979 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/F | 0.8497 | likely_pathogenic | 0.8887 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| G/H | 0.659 | likely_pathogenic | 0.7313 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/I | 0.7319 | likely_pathogenic | 0.8045 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/K | 0.6551 | likely_pathogenic | 0.7303 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| G/L | 0.7689 | likely_pathogenic | 0.8241 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/M | 0.7439 | likely_pathogenic | 0.8052 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/N | 0.3716 | ambiguous | 0.4233 | ambiguous | -0.348 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/P | 0.9801 | likely_pathogenic | 0.986 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/Q | 0.5152 | ambiguous | 0.6001 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| G/R | 0.5763 | likely_pathogenic | 0.6662 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.49352151 | None | None | N |
| G/S | 0.2129 | likely_benign | 0.2502 | benign | -0.428 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.478922747 | None | None | N |
| G/T | 0.4573 | ambiguous | 0.5224 | ambiguous | -0.554 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| G/V | 0.6168 | likely_pathogenic | 0.7078 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.517501568 | None | None | N |
| G/W | 0.7335 | likely_pathogenic | 0.7906 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/Y | 0.697 | likely_pathogenic | 0.7652 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.705 | prob.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.