Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27203 | 81832;81833;81834 | chr2:178564525;178564524;178564523 | chr2:179429252;179429251;179429250 |
| N2AB | 25562 | 76909;76910;76911 | chr2:178564525;178564524;178564523 | chr2:179429252;179429251;179429250 |
| N2A | 24635 | 74128;74129;74130 | chr2:178564525;178564524;178564523 | chr2:179429252;179429251;179429250 |
| N2B | 18138 | 54637;54638;54639 | chr2:178564525;178564524;178564523 | chr2:179429252;179429251;179429250 |
| Novex-1 | 18263 | 55012;55013;55014 | chr2:178564525;178564524;178564523 | chr2:179429252;179429251;179429250 |
| Novex-2 | 18330 | 55213;55214;55215 | chr2:178564525;178564524;178564523 | chr2:179429252;179429251;179429250 |
| 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/I | rs770336276  |
None | 1.0 | N | 0.849 | 0.427 | 0.39694197178 | 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 |
| T/I | rs770336276 |
None | 1.0 | N | 0.849 | 0.427 | 0.39694197178 | gnomAD-4.0.0 | 6.57601E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47046E-05 | 0 | 0 |
| T/K | rs770336276 |
-0.502 | 1.0 | N | 0.852 | 0.407 | 0.423360453849 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.56E-05 | None | 0 | 0 | 0 |
| T/K | rs770336276 |
-0.502 | 1.0 | N | 0.852 | 0.407 | 0.423360453849 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| T/K | rs770336276 |
-0.502 | 1.0 | N | 0.852 | 0.407 | 0.423360453849 | gnomAD-4.0.0 | 5.58013E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47869E-07 | 8.79217E-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 | 0.3285 | likely_benign | 0.2872 | benign | -0.977 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.488489216 | None | None | I |
| T/C | 0.7497 | likely_pathogenic | 0.7329 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| T/D | 0.9315 | likely_pathogenic | 0.9201 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| T/E | 0.8772 | likely_pathogenic | 0.8561 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| T/F | 0.7732 | likely_pathogenic | 0.7305 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| T/G | 0.77 | likely_pathogenic | 0.7502 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| T/H | 0.821 | likely_pathogenic | 0.7916 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| T/I | 0.3418 | ambiguous | 0.289 | benign | -0.377 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.49947454 | None | None | I |
| T/K | 0.785 | likely_pathogenic | 0.7569 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.483703049 | None | None | I |
| T/L | 0.2798 | likely_benign | 0.2524 | benign | -0.377 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | I |
| T/M | 0.2173 | likely_benign | 0.1825 | benign | 0.01 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| T/N | 0.5505 | ambiguous | 0.4924 | ambiguous | -0.701 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| T/P | 0.8411 | likely_pathogenic | 0.8205 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.53272635 | None | None | I |
| T/Q | 0.7429 | likely_pathogenic | 0.7103 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| T/R | 0.7169 | likely_pathogenic | 0.6748 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.490223963 | None | None | I |
| T/S | 0.3625 | ambiguous | 0.3175 | benign | -1.023 | Destabilizing | 0.999 | D | 0.575 | neutral | N | 0.477929378 | None | None | I |
| T/V | 0.2596 | likely_benign | 0.227 | benign | -0.546 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | I |
| T/W | 0.9424 | likely_pathogenic | 0.936 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| T/Y | 0.8376 | likely_pathogenic | 0.8234 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.857 | 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.