Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35365 | 106318;106319;106320 | chr2:178530522;178530521;178530520 | chr2:179395249;179395248;179395247 |
| N2AB | 33724 | 101395;101396;101397 | chr2:178530522;178530521;178530520 | chr2:179395249;179395248;179395247 |
| N2A | 32797 | 98614;98615;98616 | chr2:178530522;178530521;178530520 | chr2:179395249;179395248;179395247 |
| N2B | 26300 | 79123;79124;79125 | chr2:178530522;178530521;178530520 | chr2:179395249;179395248;179395247 |
| Novex-1 | 26425 | 79498;79499;79500 | chr2:178530522;178530521;178530520 | chr2:179395249;179395248;179395247 |
| Novex-2 | 26492 | 79699;79700;79701 | chr2:178530522;178530521;178530520 | chr2:179395249;179395248;179395247 |
| 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/A | None | None | 0.999 | N | 0.668 | 0.263 | 0.259761712551 | gnomAD-4.0.0 | 6.84143E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99397E-07 | 0 | 0 |
| G/D | rs778524334  |
-0.509 | 1.0 | N | 0.74 | 0.439 | 0.362960570912 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-06 | 0 |
| G/D | rs778524334 |
-0.509 | 1.0 | N | 0.74 | 0.439 | 0.362960570912 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs778524334 |
-0.509 | 1.0 | N | 0.74 | 0.439 | 0.362960570912 | gnomAD-4.0.0 | 1.85889E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69508E-06 | 0 | 1.60092E-05 |
| G/S | None | None | 1.0 | N | 0.749 | 0.296 | 0.311691414656 | gnomAD-4.0.0 | 4.10486E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39638E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1438 | likely_benign | 0.1558 | benign | -0.412 | Destabilizing | 0.999 | D | 0.668 | neutral | N | 0.412343919 | None | None | I |
| G/C | 0.3014 | likely_benign | 0.3121 | benign | -1.069 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.524362703 | None | None | I |
| G/D | 0.1831 | likely_benign | 0.195 | benign | -0.545 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.509278607 | None | None | I |
| G/E | 0.2106 | likely_benign | 0.2276 | benign | -0.678 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/F | 0.615 | likely_pathogenic | 0.6475 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.4914 | ambiguous | 0.526 | ambiguous | -0.394 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/I | 0.3527 | ambiguous | 0.3752 | ambiguous | -0.649 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.4727 | ambiguous | 0.5043 | ambiguous | -0.698 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/L | 0.5027 | ambiguous | 0.5289 | ambiguous | -0.649 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/M | 0.5098 | ambiguous | 0.5386 | ambiguous | -0.839 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.2836 | likely_benign | 0.3077 | benign | -0.426 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/P | 0.8571 | likely_pathogenic | 0.8823 | pathogenic | -0.55 | Destabilizing | 0.921 | D | 0.646 | neutral | None | None | None | None | I |
| G/Q | 0.4156 | ambiguous | 0.4426 | ambiguous | -0.64 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/R | 0.3684 | ambiguous | 0.3937 | ambiguous | -0.341 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.505160867 | None | None | I |
| G/S | 0.118 | likely_benign | 0.1264 | benign | -0.623 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.485188239 | None | None | I |
| G/T | 0.1963 | likely_benign | 0.2101 | benign | -0.692 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/V | 0.2427 | likely_benign | 0.2639 | benign | -0.55 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.455518693 | None | None | I |
| G/W | 0.4725 | ambiguous | 0.4934 | ambiguous | -1.134 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Y | 0.4599 | ambiguous | 0.4871 | ambiguous | -0.878 | Destabilizing | 1.0 | D | 0.787 | 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.