Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21044 | 63355;63356;63357 | chr2:178588595;178588594;178588593 | chr2:179453322;179453321;179453320 |
| N2AB | 19403 | 58432;58433;58434 | chr2:178588595;178588594;178588593 | chr2:179453322;179453321;179453320 |
| N2A | 18476 | 55651;55652;55653 | chr2:178588595;178588594;178588593 | chr2:179453322;179453321;179453320 |
| N2B | 11979 | 36160;36161;36162 | chr2:178588595;178588594;178588593 | chr2:179453322;179453321;179453320 |
| Novex-1 | 12104 | 36535;36536;36537 | chr2:178588595;178588594;178588593 | chr2:179453322;179453321;179453320 |
| Novex-2 | 12171 | 36736;36737;36738 | chr2:178588595;178588594;178588593 | chr2:179453322;179453321;179453320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs529879601  |
-1.094 | 0.062 | N | 0.359 | 0.265 | 0.555395099047 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | I | None | 4.23E-05 | 0 | None | 0 | 2.17391E-04 | None | 0 | None | 0 | 0 | 1.65673E-04 |
| I/T | rs529879601 |
-1.094 | 0.062 | N | 0.359 | 0.265 | 0.555395099047 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs529879601 |
-1.094 | 0.062 | N | 0.359 | 0.265 | 0.555395099047 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| I/T | rs529879601 |
-1.094 | 0.062 | N | 0.359 | 0.265 | 0.555395099047 | gnomAD-4.0.0 | 3.20527E-06 | None | None | None | None | I | None | 1.36724E-05 | 0 | None | 0 | 4.51182E-05 | None | 0 | 0 | 8.65966E-07 | 0 | 1.66367E-05 |
| I/V | rs1325938050 |
-0.993 | None | N | 0.155 | 0.096 | 0.243398259712 | gnomAD-2.1.1 | 4.79E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.02E-05 | 0 |
| I/V | rs1325938050 |
-0.993 | None | N | 0.155 | 0.096 | 0.243398259712 | gnomAD-4.0.0 | 1.73697E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.07297E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1742 | likely_benign | 0.1727 | benign | -0.561 | Destabilizing | 0.035 | N | 0.425 | neutral | None | None | None | None | I |
| I/C | 0.5901 | likely_pathogenic | 0.5597 | ambiguous | -0.654 | Destabilizing | 0.824 | D | 0.449 | neutral | None | None | None | None | I |
| I/D | 0.8356 | likely_pathogenic | 0.8014 | pathogenic | -0.302 | Destabilizing | 0.555 | D | 0.579 | neutral | None | None | None | None | I |
| I/E | 0.7147 | likely_pathogenic | 0.6862 | pathogenic | -0.394 | Destabilizing | 0.555 | D | 0.557 | neutral | None | None | None | None | I |
| I/F | 0.2127 | likely_benign | 0.2016 | benign | -0.598 | Destabilizing | 0.317 | N | 0.375 | neutral | N | 0.493719217 | None | None | I |
| I/G | 0.7095 | likely_pathogenic | 0.6685 | pathogenic | -0.71 | Destabilizing | 0.262 | N | 0.53 | neutral | None | None | None | None | I |
| I/H | 0.6556 | likely_pathogenic | 0.6297 | pathogenic | 0.038 | Stabilizing | 0.935 | D | 0.558 | neutral | None | None | None | None | I |
| I/K | 0.5778 | likely_pathogenic | 0.5536 | ambiguous | -0.369 | Destabilizing | 0.555 | D | 0.554 | neutral | None | None | None | None | I |
| I/L | 0.146 | likely_benign | 0.1525 | benign | -0.288 | Destabilizing | 0.005 | N | 0.328 | neutral | N | 0.478115046 | None | None | I |
| I/M | 0.1153 | likely_benign | 0.1108 | benign | -0.442 | Destabilizing | 0.317 | N | 0.407 | neutral | N | 0.512400978 | None | None | I |
| I/N | 0.3857 | ambiguous | 0.3542 | ambiguous | -0.179 | Destabilizing | 0.741 | D | 0.579 | neutral | N | 0.51118747 | None | None | I |
| I/P | 0.8933 | likely_pathogenic | 0.8748 | pathogenic | -0.347 | Destabilizing | 0.791 | D | 0.581 | neutral | None | None | None | None | I |
| I/Q | 0.6074 | likely_pathogenic | 0.5701 | pathogenic | -0.405 | Destabilizing | 0.791 | D | 0.575 | neutral | None | None | None | None | I |
| I/R | 0.4149 | ambiguous | 0.3934 | ambiguous | 0.2 | Stabilizing | 0.555 | D | 0.577 | neutral | None | None | None | None | I |
| I/S | 0.2987 | likely_benign | 0.2694 | benign | -0.597 | Destabilizing | 0.117 | N | 0.529 | neutral | N | 0.497700885 | None | None | I |
| I/T | 0.1217 | likely_benign | 0.1161 | benign | -0.583 | Destabilizing | 0.062 | N | 0.359 | neutral | N | 0.468633306 | None | None | I |
| I/V | 0.0591 | likely_benign | 0.0605 | benign | -0.347 | Destabilizing | None | N | 0.155 | neutral | N | 0.424029845 | None | None | I |
| I/W | 0.8408 | likely_pathogenic | 0.8068 | pathogenic | -0.612 | Destabilizing | 0.935 | D | 0.613 | neutral | None | None | None | None | I |
| I/Y | 0.5688 | likely_pathogenic | 0.5328 | ambiguous | -0.368 | Destabilizing | 0.555 | D | 0.479 | neutral | 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.