Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2821 | 8686;8687;8688 | chr2:178770240;178770239;178770238 | chr2:179634967;179634966;179634965 |
| N2AB | 2821 | 8686;8687;8688 | chr2:178770240;178770239;178770238 | chr2:179634967;179634966;179634965 |
| N2A | 2821 | 8686;8687;8688 | chr2:178770240;178770239;178770238 | chr2:179634967;179634966;179634965 |
| N2B | 2775 | 8548;8549;8550 | chr2:178770240;178770239;178770238 | chr2:179634967;179634966;179634965 |
| Novex-1 | 2775 | 8548;8549;8550 | chr2:178770240;178770239;178770238 | chr2:179634967;179634966;179634965 |
| Novex-2 | 2775 | 8548;8549;8550 | chr2:178770240;178770239;178770238 | chr2:179634967;179634966;179634965 |
| Novex-3 | 2821 | 8686;8687;8688 | chr2:178770240;178770239;178770238 | chr2:179634967;179634966;179634965 |
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/E | None | None | 0.767 | N | 0.353 | 0.271 | 0.267755039894 | gnomAD-4.0.0 | 1.59048E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-06 | 0 | 0 |
| D/Y | None | None | 1.0 | D | 0.772 | 0.585 | 0.788725443766 | gnomAD-4.0.0 | 1.59049E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-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 | 0.772 | likely_pathogenic | 0.7939 | pathogenic | -0.34 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | N | 0.504632284 | None | None | N |
| D/C | 0.984 | likely_pathogenic | 0.9853 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/E | 0.6202 | likely_pathogenic | 0.6453 | pathogenic | -0.45 | Destabilizing | 0.767 | D | 0.353 | neutral | N | 0.507426055 | None | None | N |
| D/F | 0.9769 | likely_pathogenic | 0.975 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/G | 0.7808 | likely_pathogenic | 0.7785 | pathogenic | -0.565 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | N | 0.506143532 | None | None | N |
| D/H | 0.8868 | likely_pathogenic | 0.8989 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.570928446 | None | None | N |
| D/I | 0.9544 | likely_pathogenic | 0.9508 | pathogenic | 0.21 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| D/K | 0.9527 | likely_pathogenic | 0.9545 | pathogenic | 0.006 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/L | 0.9395 | likely_pathogenic | 0.9322 | pathogenic | 0.21 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/M | 0.9849 | likely_pathogenic | 0.9833 | pathogenic | 0.371 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/N | 0.4681 | ambiguous | 0.4859 | ambiguous | -0.23 | Destabilizing | 0.999 | D | 0.75 | deleterious | N | 0.504632284 | None | None | N |
| D/P | 0.944 | likely_pathogenic | 0.9541 | pathogenic | 0.049 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| D/Q | 0.9276 | likely_pathogenic | 0.929 | pathogenic | -0.193 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| D/R | 0.9523 | likely_pathogenic | 0.9519 | pathogenic | 0.2 | Stabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| D/S | 0.5909 | likely_pathogenic | 0.6138 | pathogenic | -0.369 | Destabilizing | 0.997 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/T | 0.8801 | likely_pathogenic | 0.8779 | pathogenic | -0.204 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/V | 0.8819 | likely_pathogenic | 0.8769 | pathogenic | 0.049 | Stabilizing | 0.999 | D | 0.753 | deleterious | D | 0.57978504 | None | None | N |
| D/W | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| D/Y | 0.8616 | likely_pathogenic | 0.8687 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.6256873 | 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.