Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25549 | 76870;76871;76872 | chr2:178569487;178569486;178569485 | chr2:179434214;179434213;179434212 |
| N2AB | 23908 | 71947;71948;71949 | chr2:178569487;178569486;178569485 | chr2:179434214;179434213;179434212 |
| N2A | 22981 | 69166;69167;69168 | chr2:178569487;178569486;178569485 | chr2:179434214;179434213;179434212 |
| N2B | 16484 | 49675;49676;49677 | chr2:178569487;178569486;178569485 | chr2:179434214;179434213;179434212 |
| Novex-1 | 16609 | 50050;50051;50052 | chr2:178569487;178569486;178569485 | chr2:179434214;179434213;179434212 |
| Novex-2 | 16676 | 50251;50252;50253 | chr2:178569487;178569486;178569485 | chr2:179434214;179434213;179434212 |
| 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/S | rs181166140  |
-0.263 | 0.997 | D | 0.623 | 0.308 | None | gnomAD-2.1.1 | 3.29308E-04 | None | None | None | None | N | None | 0 | 2.58215E-03 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 0 |
| G/S | rs181166140 |
-0.263 | 0.997 | D | 0.623 | 0.308 | None | gnomAD-3.1.2 | 1.13751E-03 | None | None | None | None | N | None | 2.41E-05 | 1.12116E-02 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs181166140 |
-0.263 | 0.997 | D | 0.623 | 0.308 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 5.8E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs181166140 |
-0.263 | 0.997 | D | 0.623 | 0.308 | None | gnomAD-4.0.0 | 1.79821E-04 | None | None | None | None | N | None | 1.33316E-05 | 4.57048E-03 | None | 0 | 0 | None | 0 | 0 | 6.7848E-06 | 0 | 1.12129E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1451 | likely_benign | 0.1622 | benign | -0.332 | Destabilizing | 0.983 | D | 0.543 | neutral | N | 0.518260663 | None | None | N |
| G/C | 0.2228 | likely_benign | 0.2433 | benign | -0.979 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.528168717 | None | None | N |
| G/D | 0.2333 | likely_benign | 0.2716 | benign | -0.819 | Destabilizing | 0.997 | D | 0.704 | prob.neutral | N | 0.501619129 | None | None | N |
| G/E | 0.2269 | likely_benign | 0.2599 | benign | -0.986 | Destabilizing | 0.996 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/F | 0.6297 | likely_pathogenic | 0.6755 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/H | 0.395 | ambiguous | 0.4463 | ambiguous | -0.485 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/I | 0.3424 | ambiguous | 0.3733 | ambiguous | -0.557 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/K | 0.3483 | ambiguous | 0.3991 | ambiguous | -0.905 | Destabilizing | 0.713 | D | 0.527 | neutral | None | None | None | None | N |
| G/L | 0.4757 | ambiguous | 0.527 | ambiguous | -0.557 | Destabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| G/M | 0.4625 | ambiguous | 0.5045 | ambiguous | -0.662 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/N | 0.2487 | likely_benign | 0.2829 | benign | -0.561 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | N |
| G/P | 0.9076 | likely_pathogenic | 0.9287 | pathogenic | -0.453 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| G/Q | 0.3056 | likely_benign | 0.3434 | ambiguous | -0.862 | Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | N |
| G/R | 0.2588 | likely_benign | 0.2942 | benign | -0.415 | Destabilizing | 0.995 | D | 0.74 | deleterious | N | 0.511334691 | None | None | N |
| G/S | 0.0965 | likely_benign | 0.1048 | benign | -0.656 | Destabilizing | 0.997 | D | 0.623 | neutral | D | 0.531091101 | None | None | N |
| G/T | 0.1506 | likely_benign | 0.1675 | benign | -0.764 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/V | 0.2384 | likely_benign | 0.2634 | benign | -0.453 | Destabilizing | 0.997 | D | 0.762 | deleterious | N | 0.500445693 | None | None | N |
| G/W | 0.4992 | ambiguous | 0.546 | ambiguous | -1.209 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/Y | 0.4765 | ambiguous | 0.53 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
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.