Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33620 | 101083;101084;101085 | chr2:178535757;178535756;178535755 | chr2:179400484;179400483;179400482 |
| N2AB | 31979 | 96160;96161;96162 | chr2:178535757;178535756;178535755 | chr2:179400484;179400483;179400482 |
| N2A | 31052 | 93379;93380;93381 | chr2:178535757;178535756;178535755 | chr2:179400484;179400483;179400482 |
| N2B | 24555 | 73888;73889;73890 | chr2:178535757;178535756;178535755 | chr2:179400484;179400483;179400482 |
| Novex-1 | 24680 | 74263;74264;74265 | chr2:178535757;178535756;178535755 | chr2:179400484;179400483;179400482 |
| Novex-2 | 24747 | 74464;74465;74466 | chr2:178535757;178535756;178535755 | chr2:179400484;179400483;179400482 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/T | rs369261182  |
-0.346 | 0.217 | N | 0.252 | 0.078 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 4.14E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| S/T | rs369261182 |
-0.346 | 0.217 | N | 0.252 | 0.078 | None | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/T | rs369261182 |
-0.346 | 0.217 | N | 0.252 | 0.078 | None | gnomAD-4.0.0 | 6.26131E-05 | None | None | None | None | N | None | 2.67666E-05 | 1.66811E-05 | None | 0 | 0 | None | 0 | 0 | 8.13751E-05 | 0 | 3.20256E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1609 | likely_benign | 0.1258 | benign | -0.237 | Destabilizing | 0.877 | D | 0.304 | neutral | None | None | None | None | N |
| S/C | 0.3489 | ambiguous | 0.2214 | benign | -0.493 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.500940337 | None | None | N |
| S/D | 0.8715 | likely_pathogenic | 0.7774 | pathogenic | 0.256 | Stabilizing | 0.998 | D | 0.475 | neutral | None | None | None | None | N |
| S/E | 0.843 | likely_pathogenic | 0.7584 | pathogenic | 0.169 | Stabilizing | 0.998 | D | 0.478 | neutral | None | None | None | None | N |
| S/F | 0.5739 | likely_pathogenic | 0.3867 | ambiguous | -0.999 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| S/G | 0.3485 | ambiguous | 0.2336 | benign | -0.286 | Destabilizing | 0.998 | D | 0.378 | neutral | N | 0.514628499 | None | None | N |
| S/H | 0.6852 | likely_pathogenic | 0.534 | ambiguous | -0.509 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| S/I | 0.3867 | ambiguous | 0.2581 | benign | -0.235 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.509894683 | None | None | N |
| S/K | 0.9329 | likely_pathogenic | 0.8683 | pathogenic | -0.277 | Destabilizing | 0.999 | D | 0.47 | neutral | None | None | None | None | N |
| S/L | 0.2854 | likely_benign | 0.1831 | benign | -0.235 | Destabilizing | 0.999 | D | 0.515 | neutral | None | None | None | None | N |
| S/M | 0.4306 | ambiguous | 0.3212 | benign | -0.381 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| S/N | 0.5084 | ambiguous | 0.3467 | ambiguous | -0.16 | Destabilizing | 0.977 | D | 0.458 | neutral | N | 0.488316584 | None | None | N |
| S/P | 0.9891 | likely_pathogenic | 0.9591 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| S/Q | 0.767 | likely_pathogenic | 0.6637 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| S/R | 0.8903 | likely_pathogenic | 0.7838 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.477494263 | None | None | N |
| S/T | 0.1078 | likely_benign | 0.0876 | benign | -0.252 | Destabilizing | 0.217 | N | 0.252 | neutral | N | 0.470258859 | None | None | N |
| S/V | 0.3798 | ambiguous | 0.2681 | benign | -0.212 | Destabilizing | 0.999 | D | 0.572 | neutral | None | None | None | None | N |
| S/W | 0.8022 | likely_pathogenic | 0.6456 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/Y | 0.5702 | likely_pathogenic | 0.4001 | ambiguous | -0.759 | Destabilizing | 1.0 | D | 0.674 | neutral | 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.