Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27 | 304;305;306 | chr2:178804564;178804563;178804562 | chr2:179669291;179669290;179669289 |
| N2AB | 27 | 304;305;306 | chr2:178804564;178804563;178804562 | chr2:179669291;179669290;179669289 |
| N2A | 27 | 304;305;306 | chr2:178804564;178804563;178804562 | chr2:179669291;179669290;179669289 |
| N2B | 27 | 304;305;306 | chr2:178804564;178804563;178804562 | chr2:179669291;179669290;179669289 |
| Novex-1 | 27 | 304;305;306 | chr2:178804564;178804563;178804562 | chr2:179669291;179669290;179669289 |
| Novex-2 | 27 | 304;305;306 | chr2:178804564;178804563;178804562 | chr2:179669291;179669290;179669289 |
| Novex-3 | 27 | 304;305;306 | chr2:178804564;178804563;178804562 | chr2:179669291;179669290;179669289 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs760167840  |
-0.006 | 1.0 | N | 0.761 | 0.455 | 0.638501922959 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | -0.942(TCAP) | N | None | 6.16E-05 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs760167840 |
-0.006 | 1.0 | N | 0.761 | 0.455 | 0.638501922959 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | -0.942(TCAP) | N | None | 4.83E-05 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs760167840 |
-0.006 | 1.0 | N | 0.761 | 0.455 | 0.638501922959 | gnomAD-4.0.0 | 8.96567E-06 | None | None | None | -0.942(TCAP) | N | None | 5.07408E-05 | 6.77828E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8573 | likely_pathogenic | 0.85 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | -1.113(TCAP) | N |
| A/D | 0.98 | likely_pathogenic | 0.9824 | pathogenic | -2.898 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.554170916 | None | -1.096(TCAP) | N |
| A/E | 0.9757 | likely_pathogenic | 0.9799 | pathogenic | -2.636 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | -1.261(TCAP) | N |
| A/F | 0.9434 | likely_pathogenic | 0.9564 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | -0.591(TCAP) | N |
| A/G | 0.2347 | likely_benign | 0.2239 | benign | -1.905 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | N | 0.45319719 | None | -0.627(TCAP) | N |
| A/H | 0.9881 | likely_pathogenic | 0.9911 | pathogenic | -2.404 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | -0.112(TCAP) | N |
| A/I | 0.8449 | likely_pathogenic | 0.8647 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | -1.056(TCAP) | N |
| A/K | 0.994 | likely_pathogenic | 0.9954 | pathogenic | -1.47 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | -1.427(TCAP) | N |
| A/L | 0.7755 | likely_pathogenic | 0.8106 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -1.056(TCAP) | N |
| A/M | 0.8207 | likely_pathogenic | 0.8549 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | -1.0(TCAP) | N |
| A/N | 0.9499 | likely_pathogenic | 0.9567 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | -1.031(TCAP) | N |
| A/P | 0.9936 | likely_pathogenic | 0.9944 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.514066216 | None | -0.942(TCAP) | N |
| A/Q | 0.97 | likely_pathogenic | 0.9765 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | -1.115(TCAP) | N |
| A/R | 0.9844 | likely_pathogenic | 0.988 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | -1.385(TCAP) | N |
| A/S | 0.2506 | likely_benign | 0.2435 | benign | -2.314 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.455800214 | None | -0.719(TCAP) | N |
| A/T | 0.3416 | ambiguous | 0.358 | ambiguous | -1.929 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.455692665 | None | -0.889(TCAP) | N |
| A/V | 0.4896 | ambiguous | 0.5266 | ambiguous | -0.406 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.417018933 | None | -0.942(TCAP) | N |
| A/W | 0.9951 | likely_pathogenic | 0.9964 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | -0.698(TCAP) | N |
| A/Y | 0.973 | likely_pathogenic | 0.9797 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | None | -0.58(TCAP) | 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.