Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16703 | 50332;50333;50334 | chr2:178612418;178612417;178612416 | chr2:179477145;179477144;179477143 |
| N2AB | 15062 | 45409;45410;45411 | chr2:178612418;178612417;178612416 | chr2:179477145;179477144;179477143 |
| N2A | 14135 | 42628;42629;42630 | chr2:178612418;178612417;178612416 | chr2:179477145;179477144;179477143 |
| N2B | 7638 | 23137;23138;23139 | chr2:178612418;178612417;178612416 | chr2:179477145;179477144;179477143 |
| Novex-1 | 7763 | 23512;23513;23514 | chr2:178612418;178612417;178612416 | chr2:179477145;179477144;179477143 |
| Novex-2 | 7830 | 23713;23714;23715 | chr2:178612418;178612417;178612416 | chr2:179477145;179477144;179477143 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs778518712  |
-0.512 | 0.999 | N | 0.499 | 0.377 | 0.207176502487 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| T/A | rs778518712 |
-0.512 | 0.999 | N | 0.499 | 0.377 | 0.207176502487 | gnomAD-4.0.0 | 1.59387E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86202E-06 | 0 | 0 |
| T/I | rs757138357 |
-0.13 | 1.0 | D | 0.757 | 0.415 | 0.448099371145 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| T/I | rs757138357 |
-0.13 | 1.0 | D | 0.757 | 0.415 | 0.448099371145 | gnomAD-4.0.0 | 1.59408E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8622E-06 | 0 | 0 |
| T/N | rs757138357 |
-0.006 | 1.0 | N | 0.701 | 0.376 | 0.388334884743 | gnomAD-4.0.0 | 3.18816E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8622E-06 | 1.43345E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.285 | likely_benign | 0.2537 | benign | -0.688 | Destabilizing | 0.999 | D | 0.499 | neutral | N | 0.472916588 | None | None | N |
| T/C | 0.8072 | likely_pathogenic | 0.7984 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/D | 0.8535 | likely_pathogenic | 0.8422 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| T/E | 0.7898 | likely_pathogenic | 0.7649 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| T/F | 0.8113 | likely_pathogenic | 0.8088 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/G | 0.6447 | likely_pathogenic | 0.577 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/H | 0.7433 | likely_pathogenic | 0.7124 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| T/I | 0.6455 | likely_pathogenic | 0.6389 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.550408648 | None | None | N |
| T/K | 0.6408 | likely_pathogenic | 0.6191 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/L | 0.373 | ambiguous | 0.353 | ambiguous | -0.317 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| T/M | 0.3024 | likely_benign | 0.2729 | benign | 0.169 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/N | 0.4102 | ambiguous | 0.3852 | ambiguous | -0.453 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.471152648 | None | None | N |
| T/P | 0.4285 | ambiguous | 0.4386 | ambiguous | -0.411 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.501768583 | None | None | N |
| T/Q | 0.6465 | likely_pathogenic | 0.6018 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/R | 0.6388 | likely_pathogenic | 0.631 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/S | 0.3172 | likely_benign | 0.2843 | benign | -0.676 | Destabilizing | 0.999 | D | 0.505 | neutral | N | 0.458697978 | None | None | N |
| T/V | 0.4232 | ambiguous | 0.4113 | ambiguous | -0.411 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| T/W | 0.9633 | likely_pathogenic | 0.961 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| T/Y | 0.8308 | likely_pathogenic | 0.8391 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.747 | deleterious | 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.