Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29026 | 87301;87302;87303 | chr2:178558383;178558382;178558381 | chr2:179423110;179423109;179423108 |
| N2AB | 27385 | 82378;82379;82380 | chr2:178558383;178558382;178558381 | chr2:179423110;179423109;179423108 |
| N2A | 26458 | 79597;79598;79599 | chr2:178558383;178558382;178558381 | chr2:179423110;179423109;179423108 |
| N2B | 19961 | 60106;60107;60108 | chr2:178558383;178558382;178558381 | chr2:179423110;179423109;179423108 |
| Novex-1 | 20086 | 60481;60482;60483 | chr2:178558383;178558382;178558381 | chr2:179423110;179423109;179423108 |
| Novex-2 | 20153 | 60682;60683;60684 | chr2:178558383;178558382;178558381 | chr2:179423110;179423109;179423108 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs876658090  |
-0.515 | 0.999 | N | 0.658 | 0.316 | 0.599992621797 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs876658090 |
-0.515 | 0.999 | N | 0.658 | 0.316 | 0.599992621797 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs876658090 |
-0.515 | 0.999 | N | 0.658 | 0.316 | 0.599992621797 | gnomAD-4.0.0 | 3.71874E-06 | None | None | None | None | I | None | 1.33494E-05 | 1.66756E-05 | None | 0 | 0 | None | 0 | 0 | 3.39055E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1339 | likely_benign | 0.1118 | benign | -1.683 | Destabilizing | 0.963 | D | 0.559 | neutral | N | 0.474265166 | None | None | I |
| P/C | 0.7268 | likely_pathogenic | 0.6316 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/D | 0.9391 | likely_pathogenic | 0.9104 | pathogenic | -1.638 | Destabilizing | 0.984 | D | 0.673 | neutral | None | None | None | None | I |
| P/E | 0.8139 | likely_pathogenic | 0.7397 | pathogenic | -1.587 | Destabilizing | 0.99 | D | 0.665 | neutral | None | None | None | None | I |
| P/F | 0.7762 | likely_pathogenic | 0.671 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| P/G | 0.5783 | likely_pathogenic | 0.4839 | ambiguous | -2.049 | Highly Destabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | I |
| P/H | 0.5652 | likely_pathogenic | 0.4538 | ambiguous | -1.626 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/I | 0.7337 | likely_pathogenic | 0.6782 | pathogenic | -0.743 | Destabilizing | 0.93 | D | 0.577 | neutral | None | None | None | None | I |
| P/K | 0.8031 | likely_pathogenic | 0.7321 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| P/L | 0.5303 | ambiguous | 0.4778 | ambiguous | -0.743 | Destabilizing | 0.999 | D | 0.658 | neutral | N | 0.499433312 | None | None | I |
| P/M | 0.7422 | likely_pathogenic | 0.6751 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/N | 0.8576 | likely_pathogenic | 0.7888 | pathogenic | -1.091 | Destabilizing | 0.997 | D | 0.741 | deleterious | None | None | None | None | I |
| P/Q | 0.5767 | likely_pathogenic | 0.4707 | ambiguous | -1.212 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.522034245 | None | None | I |
| P/R | 0.6618 | likely_pathogenic | 0.5746 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.498650071 | None | None | I |
| P/S | 0.3059 | likely_benign | 0.2387 | benign | -1.63 | Destabilizing | 0.978 | D | 0.605 | neutral | N | 0.483165936 | None | None | I |
| P/T | 0.4037 | ambiguous | 0.332 | benign | -1.475 | Destabilizing | 0.349 | N | 0.457 | neutral | N | 0.487547255 | None | None | I |
| P/V | 0.5626 | ambiguous | 0.5011 | ambiguous | -1.024 | Destabilizing | 0.5 | D | 0.53 | neutral | None | None | None | None | I |
| P/W | 0.893 | likely_pathogenic | 0.8391 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| P/Y | 0.7894 | likely_pathogenic | 0.696 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.804 | 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.