Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32953 | 99082;99083;99084 | chr2:178539078;178539077;178539076 | chr2:179403805;179403804;179403803 |
| N2AB | 31312 | 94159;94160;94161 | chr2:178539078;178539077;178539076 | chr2:179403805;179403804;179403803 |
| N2A | 30385 | 91378;91379;91380 | chr2:178539078;178539077;178539076 | chr2:179403805;179403804;179403803 |
| N2B | 23888 | 71887;71888;71889 | chr2:178539078;178539077;178539076 | chr2:179403805;179403804;179403803 |
| Novex-1 | 24013 | 72262;72263;72264 | chr2:178539078;178539077;178539076 | chr2:179403805;179403804;179403803 |
| Novex-2 | 24080 | 72463;72464;72465 | chr2:178539078;178539077;178539076 | chr2:179403805;179403804;179403803 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1179770836  |
-0.944 | 0.999 | N | 0.431 | 0.406 | 0.321951552304 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/A | rs1179770836 |
-0.944 | 0.999 | N | 0.431 | 0.406 | 0.321951552304 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs1179770836 |
-0.944 | 0.999 | N | 0.431 | 0.406 | 0.321951552304 | gnomAD-4.0.0 | 7.43657E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01718E-05 | 0 | 0 |
| T/I | None | None | 1.0 | N | 0.685 | 0.443 | 0.619116397592 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1263 | likely_benign | 0.1317 | benign | -0.484 | Destabilizing | 0.999 | D | 0.431 | neutral | N | 0.474096093 | None | None | N |
| T/C | 0.6763 | likely_pathogenic | 0.6825 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| T/D | 0.764 | likely_pathogenic | 0.7199 | pathogenic | 0.436 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| T/E | 0.7055 | likely_pathogenic | 0.6579 | pathogenic | 0.375 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/F | 0.5536 | ambiguous | 0.5564 | ambiguous | -0.893 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/G | 0.3639 | ambiguous | 0.3887 | ambiguous | -0.63 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| T/H | 0.4971 | ambiguous | 0.4933 | ambiguous | -0.839 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/I | 0.4027 | ambiguous | 0.4029 | ambiguous | -0.213 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.508056738 | None | None | N |
| T/K | 0.4703 | ambiguous | 0.388 | ambiguous | -0.324 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/L | 0.1784 | likely_benign | 0.1854 | benign | -0.213 | Destabilizing | 0.999 | D | 0.582 | neutral | None | None | None | None | N |
| T/M | 0.1587 | likely_benign | 0.1597 | benign | -0.12 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/N | 0.2187 | likely_benign | 0.2219 | benign | -0.171 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.475194958 | None | None | N |
| T/P | 0.18 | likely_benign | 0.1845 | benign | -0.274 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.44262118 | None | None | N |
| T/Q | 0.4056 | ambiguous | 0.3837 | ambiguous | -0.368 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/R | 0.4736 | ambiguous | 0.377 | ambiguous | -0.069 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/S | 0.1715 | likely_benign | 0.1832 | benign | -0.453 | Destabilizing | 0.999 | D | 0.425 | neutral | N | 0.471287862 | None | None | N |
| T/V | 0.2648 | likely_benign | 0.2848 | benign | -0.274 | Destabilizing | 0.999 | D | 0.54 | neutral | None | None | None | None | N |
| T/W | 0.8818 | likely_pathogenic | 0.8753 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| T/Y | 0.6396 | likely_pathogenic | 0.6356 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | 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.