Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25099 | 75520;75521;75522 | chr2:178570837;178570836;178570835 | chr2:179435564;179435563;179435562 |
| N2AB | 23458 | 70597;70598;70599 | chr2:178570837;178570836;178570835 | chr2:179435564;179435563;179435562 |
| N2A | 22531 | 67816;67817;67818 | chr2:178570837;178570836;178570835 | chr2:179435564;179435563;179435562 |
| N2B | 16034 | 48325;48326;48327 | chr2:178570837;178570836;178570835 | chr2:179435564;179435563;179435562 |
| Novex-1 | 16159 | 48700;48701;48702 | chr2:178570837;178570836;178570835 | chr2:179435564;179435563;179435562 |
| Novex-2 | 16226 | 48901;48902;48903 | chr2:178570837;178570836;178570835 | chr2:179435564;179435563;179435562 |
| 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/P | None | None | 0.003 | N | 0.282 | 0.141 | 0.149567049428 | gnomAD-4.0.0 | 6.84299E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| A/T | None | None | 0.518 | N | 0.48 | 0.059 | 0.221734844693 | gnomAD-4.0.0 | 6.84299E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 0 |
| A/V | None | None | 0.682 | N | 0.505 | 0.288 | 0.344251166708 | gnomAD-4.0.0 | 6.84303E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9957E-07 | 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 | 0.5281 | ambiguous | 0.5207 | ambiguous | -0.859 | Destabilizing | 0.996 | D | 0.54 | neutral | None | None | None | None | I |
| A/D | 0.4639 | ambiguous | 0.4147 | ambiguous | -0.309 | Destabilizing | 0.74 | D | 0.715 | prob.delet. | None | None | None | None | I |
| A/E | 0.3493 | ambiguous | 0.3301 | benign | -0.429 | Destabilizing | 0.682 | D | 0.606 | neutral | N | 0.457421982 | None | None | I |
| A/F | 0.4105 | ambiguous | 0.4005 | ambiguous | -0.831 | Destabilizing | 0.953 | D | 0.787 | deleterious | None | None | None | None | I |
| A/G | 0.2339 | likely_benign | 0.218 | benign | -0.582 | Destabilizing | 0.307 | N | 0.449 | neutral | N | 0.455869925 | None | None | I |
| A/H | 0.6237 | likely_pathogenic | 0.5996 | pathogenic | -0.489 | Destabilizing | 0.996 | D | 0.778 | deleterious | None | None | None | None | I |
| A/I | 0.2634 | likely_benign | 0.2535 | benign | -0.342 | Destabilizing | 0.953 | D | 0.626 | neutral | None | None | None | None | I |
| A/K | 0.6794 | likely_pathogenic | 0.6441 | pathogenic | -0.754 | Destabilizing | 0.74 | D | 0.601 | neutral | None | None | None | None | I |
| A/L | 0.226 | likely_benign | 0.2202 | benign | -0.342 | Destabilizing | 0.74 | D | 0.588 | neutral | None | None | None | None | I |
| A/M | 0.2835 | likely_benign | 0.2745 | benign | -0.409 | Destabilizing | 0.996 | D | 0.62 | neutral | None | None | None | None | I |
| A/N | 0.3497 | ambiguous | 0.3301 | benign | -0.464 | Destabilizing | 0.909 | D | 0.708 | prob.delet. | None | None | None | None | I |
| A/P | 0.088 | likely_benign | 0.0896 | benign | -0.346 | Destabilizing | 0.003 | N | 0.282 | neutral | N | 0.352294672 | None | None | I |
| A/Q | 0.4701 | ambiguous | 0.4421 | ambiguous | -0.703 | Destabilizing | 0.909 | D | 0.613 | neutral | None | None | None | None | I |
| A/R | 0.6303 | likely_pathogenic | 0.5965 | pathogenic | -0.301 | Destabilizing | 0.909 | D | 0.622 | neutral | None | None | None | None | I |
| A/S | 0.1235 | likely_benign | 0.1161 | benign | -0.78 | Destabilizing | 0.012 | N | 0.244 | neutral | N | 0.438489505 | None | None | I |
| A/T | 0.1297 | likely_benign | 0.123 | benign | -0.807 | Destabilizing | 0.518 | D | 0.48 | neutral | N | 0.431408817 | None | None | I |
| A/V | 0.1506 | likely_benign | 0.1464 | benign | -0.346 | Destabilizing | 0.682 | D | 0.505 | neutral | N | 0.451307113 | None | None | I |
| A/W | 0.8098 | likely_pathogenic | 0.7957 | pathogenic | -0.982 | Destabilizing | 0.996 | D | 0.809 | deleterious | None | None | None | None | I |
| A/Y | 0.5492 | ambiguous | 0.5363 | ambiguous | -0.632 | Destabilizing | 0.984 | D | 0.788 | 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.