Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3950 | 12073;12074;12075 | chr2:178741385;178741384;178741383 | chr2:179606112;179606111;179606110 |
| N2AB | 3633 | 11122;11123;11124 | chr2:178741385;178741384;178741383 | chr2:179606112;179606111;179606110 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3587 | 10984;10985;10986 | chr2:178741385;178741384;178741383 | chr2:179606112;179606111;179606110 |
| Novex-1 | 3712 | 11359;11360;11361 | chr2:178741385;178741384;178741383 | chr2:179606112;179606111;179606110 |
| Novex-2 | 3779 | 11560;11561;11562 | chr2:178741385;178741384;178741383 | chr2:179606112;179606111;179606110 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1254502584  |
-0.631 | None | N | 0.322 | 0.12 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1254502584 |
-0.631 | None | N | 0.322 | 0.12 | None | gnomAD-4.0.0 | 4.77319E-06 | None | None | None | None | I | None | 0 | 4.57268E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02389E-05 |
| A/V | rs1206322976 |
-0.272 | None | N | 0.182 | 0.096 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1206322976 |
-0.272 | None | N | 0.182 | 0.096 | None | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77285E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4529 | ambiguous | 0.4032 | ambiguous | -0.718 | Destabilizing | 0.676 | D | 0.387 | neutral | None | None | None | None | I |
| A/D | 0.2643 | likely_benign | 0.2457 | benign | -0.661 | Destabilizing | None | N | 0.399 | neutral | N | 0.505088798 | None | None | I |
| A/E | 0.2102 | likely_benign | 0.1917 | benign | -0.79 | Destabilizing | 0.038 | N | 0.401 | neutral | None | None | None | None | I |
| A/F | 0.2433 | likely_benign | 0.2092 | benign | -0.869 | Destabilizing | 0.214 | N | 0.547 | neutral | None | None | None | None | I |
| A/G | 0.1496 | likely_benign | 0.1416 | benign | -0.555 | Destabilizing | None | N | 0.187 | neutral | N | 0.506884106 | None | None | I |
| A/H | 0.3914 | ambiguous | 0.354 | ambiguous | -0.595 | Destabilizing | 0.864 | D | 0.531 | neutral | None | None | None | None | I |
| A/I | 0.1753 | likely_benign | 0.143 | benign | -0.339 | Destabilizing | 0.013 | N | 0.363 | neutral | None | None | None | None | I |
| A/K | 0.3027 | likely_benign | 0.2715 | benign | -0.907 | Destabilizing | 0.072 | N | 0.367 | neutral | None | None | None | None | I |
| A/L | 0.148 | likely_benign | 0.1269 | benign | -0.339 | Destabilizing | 0.016 | N | 0.373 | neutral | None | None | None | None | I |
| A/M | 0.2103 | likely_benign | 0.1762 | benign | -0.361 | Destabilizing | 0.214 | N | 0.423 | neutral | None | None | None | None | I |
| A/N | 0.2385 | likely_benign | 0.2122 | benign | -0.512 | Destabilizing | 0.038 | N | 0.5 | neutral | None | None | None | None | I |
| A/P | 0.1596 | likely_benign | 0.1489 | benign | -0.337 | Destabilizing | None | N | 0.301 | neutral | N | 0.475913339 | None | None | I |
| A/Q | 0.2685 | likely_benign | 0.2404 | benign | -0.78 | Destabilizing | 0.356 | N | 0.435 | neutral | None | None | None | None | I |
| A/R | 0.2384 | likely_benign | 0.2173 | benign | -0.41 | Destabilizing | 0.214 | N | 0.432 | neutral | None | None | None | None | I |
| A/S | 0.0894 | likely_benign | 0.0869 | benign | -0.735 | Destabilizing | 0.002 | N | 0.243 | neutral | N | 0.497376738 | None | None | I |
| A/T | 0.0809 | likely_benign | 0.0765 | benign | -0.786 | Destabilizing | None | N | 0.322 | neutral | N | 0.484252715 | None | None | I |
| A/V | 0.1012 | likely_benign | 0.0872 | benign | -0.337 | Destabilizing | None | N | 0.182 | neutral | N | 0.458513246 | None | None | I |
| A/W | 0.6725 | likely_pathogenic | 0.6154 | pathogenic | -1.056 | Destabilizing | 0.864 | D | 0.587 | neutral | None | None | None | None | I |
| A/Y | 0.4001 | ambiguous | 0.3588 | ambiguous | -0.712 | Destabilizing | 0.356 | N | 0.547 | 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.