Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33109 | 99550;99551;99552 | chr2:178537882;178537881;178537880 | chr2:179402609;179402608;179402607 |
| N2AB | 31468 | 94627;94628;94629 | chr2:178537882;178537881;178537880 | chr2:179402609;179402608;179402607 |
| N2A | 30541 | 91846;91847;91848 | chr2:178537882;178537881;178537880 | chr2:179402609;179402608;179402607 |
| N2B | 24044 | 72355;72356;72357 | chr2:178537882;178537881;178537880 | chr2:179402609;179402608;179402607 |
| Novex-1 | 24169 | 72730;72731;72732 | chr2:178537882;178537881;178537880 | chr2:179402609;179402608;179402607 |
| Novex-2 | 24236 | 72931;72932;72933 | chr2:178537882;178537881;178537880 | chr2:179402609;179402608;179402607 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1481058510  |
-0.997 | 1.0 | N | 0.687 | 0.551 | 0.298403945805 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/G | rs1481058510 |
-0.997 | 1.0 | N | 0.687 | 0.551 | 0.298403945805 | 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 |
| D/G | rs1481058510 |
-0.997 | 1.0 | N | 0.687 | 0.551 | 0.298403945805 | gnomAD-4.0.0 | 6.57047E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-05 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.583 | 0.394 | 0.275215494804 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.395 | ambiguous | 0.4171 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | N | 0.471584778 | None | None | N |
| D/C | 0.905 | likely_pathogenic | 0.9094 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| D/E | 0.3185 | likely_benign | 0.3586 | ambiguous | -0.328 | Destabilizing | 1.0 | D | 0.421 | neutral | N | 0.483781864 | None | None | N |
| D/F | 0.9304 | likely_pathogenic | 0.9366 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/G | 0.3775 | ambiguous | 0.3856 | ambiguous | -0.586 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.4792181 | None | None | N |
| D/H | 0.6901 | likely_pathogenic | 0.6938 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.468066059 | None | None | N |
| D/I | 0.8189 | likely_pathogenic | 0.83 | pathogenic | 0.217 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| D/K | 0.8381 | likely_pathogenic | 0.8396 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/L | 0.801 | likely_pathogenic | 0.8268 | pathogenic | 0.217 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/M | 0.9076 | likely_pathogenic | 0.9243 | pathogenic | 0.374 | Stabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| D/N | 0.191 | likely_benign | 0.1913 | benign | -0.166 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.432024892 | None | None | N |
| D/P | 0.7266 | likely_pathogenic | 0.7441 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| D/Q | 0.7578 | likely_pathogenic | 0.7852 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | N |
| D/R | 0.8687 | likely_pathogenic | 0.8718 | pathogenic | 0.414 | Stabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| D/S | 0.3222 | likely_benign | 0.3348 | benign | -0.267 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| D/T | 0.5724 | likely_pathogenic | 0.601 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/V | 0.599 | likely_pathogenic | 0.6159 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.46730559 | None | None | N |
| D/W | 0.9809 | likely_pathogenic | 0.9835 | pathogenic | 0.013 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| D/Y | 0.6014 | likely_pathogenic | 0.5984 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.661 | neutral | N | 0.487486987 | 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.