Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3012 | 9259;9260;9261 | chr2:178768802;178768801;178768800 | chr2:179633529;179633528;179633527 |
| N2AB | 3012 | 9259;9260;9261 | chr2:178768802;178768801;178768800 | chr2:179633529;179633528;179633527 |
| N2A | 3012 | 9259;9260;9261 | chr2:178768802;178768801;178768800 | chr2:179633529;179633528;179633527 |
| N2B | 2966 | 9121;9122;9123 | chr2:178768802;178768801;178768800 | chr2:179633529;179633528;179633527 |
| Novex-1 | 2966 | 9121;9122;9123 | chr2:178768802;178768801;178768800 | chr2:179633529;179633528;179633527 |
| Novex-2 | 2966 | 9121;9122;9123 | chr2:178768802;178768801;178768800 | chr2:179633529;179633528;179633527 |
| Novex-3 | 3012 | 9259;9260;9261 | chr2:178768802;178768801;178768800 | chr2:179633529;179633528;179633527 |
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 | rs2090980591  |
None | 1.0 | N | 0.504 | 0.535 | 0.1749357433 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30941E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs2090980591 |
None | 1.0 | N | 0.504 | 0.535 | 0.1749357433 | gnomAD-4.0.0 | 2.47834E-06 | None | None | None | None | N | None | 0 | 3.33389E-05 | None | 0 | 0 | None | 0 | 0 | 1.69491E-06 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.555 | 0.379 | 0.195762928549 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77546E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4242 | ambiguous | 0.5053 | ambiguous | -0.029 | Destabilizing | 1.0 | D | 0.571 | neutral | N | 0.445932954 | None | None | N |
| D/C | 0.9329 | likely_pathogenic | 0.9608 | pathogenic | 0.081 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/E | 0.2011 | likely_benign | 0.2452 | benign | -0.225 | Destabilizing | 1.0 | D | 0.365 | neutral | N | 0.446835893 | None | None | N |
| D/F | 0.9243 | likely_pathogenic | 0.9503 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/G | 0.4281 | ambiguous | 0.4857 | ambiguous | -0.161 | Destabilizing | 1.0 | D | 0.504 | neutral | N | 0.446710006 | None | None | N |
| D/H | 0.7439 | likely_pathogenic | 0.8231 | pathogenic | 0.264 | Stabilizing | 1.0 | D | 0.597 | neutral | N | 0.506025597 | None | None | N |
| D/I | 0.7851 | likely_pathogenic | 0.8572 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| D/K | 0.7485 | likely_pathogenic | 0.8187 | pathogenic | 0.494 | Stabilizing | 1.0 | D | 0.543 | neutral | None | None | None | None | N |
| D/L | 0.77 | likely_pathogenic | 0.8311 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/M | 0.897 | likely_pathogenic | 0.9375 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/N | 0.2274 | likely_benign | 0.2874 | benign | 0.291 | Stabilizing | 1.0 | D | 0.555 | neutral | N | 0.453089676 | None | None | N |
| D/P | 0.806 | likely_pathogenic | 0.8508 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.57 | neutral | None | None | None | None | N |
| D/Q | 0.6956 | likely_pathogenic | 0.7625 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | N |
| D/R | 0.7988 | likely_pathogenic | 0.8508 | pathogenic | 0.636 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| D/S | 0.3015 | likely_benign | 0.3623 | ambiguous | 0.195 | Stabilizing | 1.0 | D | 0.546 | neutral | None | None | None | None | N |
| D/T | 0.5982 | likely_pathogenic | 0.6878 | pathogenic | 0.299 | Stabilizing | 1.0 | D | 0.545 | neutral | None | None | None | None | N |
| D/V | 0.5803 | likely_pathogenic | 0.6834 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.482501325 | None | None | N |
| D/W | 0.9833 | likely_pathogenic | 0.9889 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| D/Y | 0.6742 | likely_pathogenic | 0.7536 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.682 | prob.neutral | D | 0.546779152 | 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.