Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33301 | 100126;100127;100128 | chr2:178537208;178537207;178537206 | chr2:179401935;179401934;179401933 |
| N2AB | 31660 | 95203;95204;95205 | chr2:178537208;178537207;178537206 | chr2:179401935;179401934;179401933 |
| N2A | 30733 | 92422;92423;92424 | chr2:178537208;178537207;178537206 | chr2:179401935;179401934;179401933 |
| N2B | 24236 | 72931;72932;72933 | chr2:178537208;178537207;178537206 | chr2:179401935;179401934;179401933 |
| Novex-1 | 24361 | 73306;73307;73308 | chr2:178537208;178537207;178537206 | chr2:179401935;179401934;179401933 |
| Novex-2 | 24428 | 73507;73508;73509 | chr2:178537208;178537207;178537206 | chr2:179401935;179401934;179401933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | 0.02 | N | 0.138 | 0.032 | 0.115124310173 | gnomAD-4.0.0 | 1.80048E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.96875E-05 | 0 | 0 |
| E/G | None | None | 0.939 | N | 0.565 | 0.417 | 0.42828666871 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| E/K | rs72648278  |
0.348 | 0.989 | N | 0.485 | 0.25 | None | gnomAD-2.1.1 | 3.26605E-04 | None | None | None | None | I | None | 1.2408E-04 | 5.68E-05 | None | 0 | 0 | None | 0 | None | 2.81645E-04 | 5.97672E-04 | 4.24809E-04 |
| E/K | rs72648278 |
0.348 | 0.989 | N | 0.485 | 0.25 | None | gnomAD-3.1.2 | 3.81358E-04 | None | None | None | None | I | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 4.73126E-04 | 0 | 7.0553E-04 | 0 | 4.78011E-04 |
| E/K | rs72648278 |
0.348 | 0.989 | N | 0.485 | 0.25 | None | gnomAD-4.0.0 | 5.39021E-04 | None | None | None | None | I | None | 1.06918E-04 | 3.34079E-05 | None | 0 | 0 | None | 3.75799E-04 | 0 | 6.86352E-04 | 0 | 4.17135E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5302 | ambiguous | 0.4915 | ambiguous | -0.517 | Destabilizing | 0.939 | D | 0.579 | neutral | N | 0.477557686 | None | None | I |
| E/C | 0.9829 | likely_pathogenic | 0.9757 | pathogenic | -0.22 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | I |
| E/D | 0.188 | likely_benign | 0.1937 | benign | -0.406 | Destabilizing | 0.02 | N | 0.138 | neutral | N | 0.401347774 | None | None | I |
| E/F | 0.9821 | likely_pathogenic | 0.9741 | pathogenic | -0.225 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | I |
| E/G | 0.5379 | ambiguous | 0.5172 | ambiguous | -0.732 | Destabilizing | 0.939 | D | 0.565 | neutral | N | 0.474845455 | None | None | I |
| E/H | 0.8679 | likely_pathogenic | 0.8245 | pathogenic | 0.087 | Stabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | I |
| E/I | 0.9095 | likely_pathogenic | 0.8748 | pathogenic | 0.025 | Stabilizing | 0.993 | D | 0.747 | deleterious | None | None | None | None | I |
| E/K | 0.612 | likely_pathogenic | 0.5459 | ambiguous | 0.274 | Stabilizing | 0.989 | D | 0.485 | neutral | N | 0.468266199 | None | None | I |
| E/L | 0.8923 | likely_pathogenic | 0.8488 | pathogenic | 0.025 | Stabilizing | 0.993 | D | 0.736 | prob.delet. | None | None | None | None | I |
| E/M | 0.9206 | likely_pathogenic | 0.8868 | pathogenic | 0.083 | Stabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | I |
| E/N | 0.583 | likely_pathogenic | 0.5343 | ambiguous | -0.236 | Destabilizing | 0.973 | D | 0.579 | neutral | None | None | None | None | I |
| E/P | 0.9724 | likely_pathogenic | 0.9712 | pathogenic | -0.136 | Destabilizing | 0.993 | D | 0.736 | prob.delet. | None | None | None | None | I |
| E/Q | 0.4602 | ambiguous | 0.3944 | ambiguous | -0.177 | Destabilizing | 0.996 | D | 0.565 | neutral | N | 0.467458123 | None | None | I |
| E/R | 0.7779 | likely_pathogenic | 0.7299 | pathogenic | 0.557 | Stabilizing | 0.993 | D | 0.623 | neutral | None | None | None | None | I |
| E/S | 0.5115 | ambiguous | 0.4812 | ambiguous | -0.374 | Destabilizing | 0.953 | D | 0.489 | neutral | None | None | None | None | I |
| E/T | 0.603 | likely_pathogenic | 0.5452 | ambiguous | -0.189 | Destabilizing | 0.993 | D | 0.659 | neutral | None | None | None | None | I |
| E/V | 0.7601 | likely_pathogenic | 0.6855 | pathogenic | -0.136 | Destabilizing | 0.991 | D | 0.709 | prob.delet. | N | 0.475808247 | None | None | I |
| E/W | 0.9936 | likely_pathogenic | 0.9909 | pathogenic | -0.001 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | I |
| E/Y | 0.9528 | likely_pathogenic | 0.9365 | pathogenic | 0.033 | Stabilizing | 0.999 | D | 0.697 | prob.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.