Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19648 | 59167;59168;59169 | chr2:178593266;178593265;178593264 | chr2:179457993;179457992;179457991 |
| N2AB | 18007 | 54244;54245;54246 | chr2:178593266;178593265;178593264 | chr2:179457993;179457992;179457991 |
| N2A | 17080 | 51463;51464;51465 | chr2:178593266;178593265;178593264 | chr2:179457993;179457992;179457991 |
| N2B | 10583 | 31972;31973;31974 | chr2:178593266;178593265;178593264 | chr2:179457993;179457992;179457991 |
| Novex-1 | 10708 | 32347;32348;32349 | chr2:178593266;178593265;178593264 | chr2:179457993;179457992;179457991 |
| Novex-2 | 10775 | 32548;32549;32550 | chr2:178593266;178593265;178593264 | chr2:179457993;179457992;179457991 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs375814269  |
-0.851 | 1.0 | N | 0.743 | 0.514 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/R | rs375814269 |
-0.851 | 1.0 | N | 0.743 | 0.514 | None | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85945E-06 | 0 | 0 |
| C/W | rs764728016 |
-1.085 | 1.0 | N | 0.687 | 0.45 | 0.681846154797 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 1.45104E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/W | rs764728016 |
-1.085 | 1.0 | N | 0.687 | 0.45 | 0.681846154797 | gnomAD-4.0.0 | 7.9597E-06 | None | None | None | None | N | None | 0 | 1.14385E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs2050636382 |
None | 1.0 | N | 0.737 | 0.424 | 0.722062237389 | gnomAD-4.0.0 | 1.20041E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66354E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7423 | likely_pathogenic | 0.6693 | pathogenic | -1.885 | Destabilizing | 0.998 | D | 0.493 | neutral | None | None | None | None | N |
| C/D | 0.9537 | likely_pathogenic | 0.9204 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| C/E | 0.9642 | likely_pathogenic | 0.9461 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| C/F | 0.5393 | ambiguous | 0.3843 | ambiguous | -1.174 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.512880981 | None | None | N |
| C/G | 0.5398 | ambiguous | 0.4289 | ambiguous | -2.205 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.476613537 | None | None | N |
| C/H | 0.8241 | likely_pathogenic | 0.7071 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| C/I | 0.7605 | likely_pathogenic | 0.6908 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| C/K | 0.9659 | likely_pathogenic | 0.9305 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| C/L | 0.6571 | likely_pathogenic | 0.5972 | pathogenic | -1.044 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| C/M | 0.7676 | likely_pathogenic | 0.7385 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| C/N | 0.7128 | likely_pathogenic | 0.6584 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| C/P | 0.9947 | likely_pathogenic | 0.9919 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| C/Q | 0.8836 | likely_pathogenic | 0.8064 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/R | 0.8672 | likely_pathogenic | 0.7368 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.449040146 | None | None | N |
| C/S | 0.6309 | likely_pathogenic | 0.5079 | ambiguous | -1.571 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.430262384 | None | None | N |
| C/T | 0.7445 | likely_pathogenic | 0.6892 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| C/V | 0.6548 | likely_pathogenic | 0.6109 | pathogenic | -1.301 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| C/W | 0.8594 | likely_pathogenic | 0.7333 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.502010626 | None | None | N |
| C/Y | 0.6752 | likely_pathogenic | 0.5137 | ambiguous | -1.147 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.469202738 | 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.