Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22125 | 66598;66599;66600 | chr2:178581996;178581995;178581994 | chr2:179446723;179446722;179446721 |
| N2AB | 20484 | 61675;61676;61677 | chr2:178581996;178581995;178581994 | chr2:179446723;179446722;179446721 |
| N2A | 19557 | 58894;58895;58896 | chr2:178581996;178581995;178581994 | chr2:179446723;179446722;179446721 |
| N2B | 13060 | 39403;39404;39405 | chr2:178581996;178581995;178581994 | chr2:179446723;179446722;179446721 |
| Novex-1 | 13185 | 39778;39779;39780 | chr2:178581996;178581995;178581994 | chr2:179446723;179446722;179446721 |
| Novex-2 | 13252 | 39979;39980;39981 | chr2:178581996;178581995;178581994 | chr2:179446723;179446722;179446721 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 1.0 | N | 0.702 | 0.472 | 0.433600339574 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86025E-06 | 0 | 0 |
| E/K | rs752675920  |
-0.854 | 1.0 | N | 0.591 | 0.385 | 0.355865052028 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 1.73963E-04 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs752675920 |
-0.854 | 1.0 | N | 0.591 | 0.385 | 0.355865052028 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs752675920 |
-0.854 | 1.0 | N | 0.591 | 0.385 | 0.355865052028 | gnomAD-4.0.0 | 8.05873E-06 | None | None | None | None | N | None | 0 | 1.00077E-04 | None | 0 | 2.23404E-05 | None | 0 | 0 | 3.39127E-06 | 0 | 3.20359E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1567 | likely_benign | 0.1553 | benign | -1.094 | Destabilizing | 0.999 | D | 0.651 | neutral | N | 0.468952929 | None | None | N |
| E/C | 0.8467 | likely_pathogenic | 0.8664 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| E/D | 0.3585 | ambiguous | 0.3425 | ambiguous | -1.183 | Destabilizing | 0.999 | D | 0.473 | neutral | N | 0.477173684 | None | None | N |
| E/F | 0.8546 | likely_pathogenic | 0.8706 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/G | 0.3881 | ambiguous | 0.3899 | ambiguous | -1.517 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.487817653 | None | None | N |
| E/H | 0.7105 | likely_pathogenic | 0.7305 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| E/I | 0.4158 | ambiguous | 0.4487 | ambiguous | 0.089 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| E/K | 0.2746 | likely_benign | 0.2817 | benign | -0.987 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.509534032 | None | None | N |
| E/L | 0.4593 | ambiguous | 0.4847 | ambiguous | 0.089 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/M | 0.4603 | ambiguous | 0.4913 | ambiguous | 0.701 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| E/N | 0.4892 | ambiguous | 0.4854 | ambiguous | -1.429 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/P | 0.5188 | ambiguous | 0.5138 | ambiguous | -0.286 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| E/Q | 0.175 | likely_benign | 0.1867 | benign | -1.239 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.481675427 | None | None | N |
| E/R | 0.4208 | ambiguous | 0.4418 | ambiguous | -0.693 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| E/S | 0.3123 | likely_benign | 0.3163 | benign | -1.904 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| E/T | 0.3214 | likely_benign | 0.336 | benign | -1.543 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| E/V | 0.2575 | likely_benign | 0.2789 | benign | -0.286 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.520233815 | None | None | N |
| E/W | 0.9541 | likely_pathogenic | 0.9592 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/Y | 0.7913 | likely_pathogenic | 0.8102 | pathogenic | -0.105 | 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.