Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15283 | 46072;46073;46074 | chr2:178620763;178620762;178620761 | chr2:179485490;179485489;179485488 |
| N2AB | 13642 | 41149;41150;41151 | chr2:178620763;178620762;178620761 | chr2:179485490;179485489;179485488 |
| N2A | 12715 | 38368;38369;38370 | chr2:178620763;178620762;178620761 | chr2:179485490;179485489;179485488 |
| N2B | 6218 | 18877;18878;18879 | chr2:178620763;178620762;178620761 | chr2:179485490;179485489;179485488 |
| Novex-1 | 6343 | 19252;19253;19254 | chr2:178620763;178620762;178620761 | chr2:179485490;179485489;179485488 |
| Novex-2 | 6410 | 19453;19454;19455 | chr2:178620763;178620762;178620761 | chr2:179485490;179485489;179485488 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs992729815  |
None | 1.0 | D | 0.719 | 0.693 | 0.339793275041 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/H | rs992729815 |
None | 1.0 | D | 0.719 | 0.693 | 0.339793275041 | gnomAD-4.0.0 | 2.03025E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41012E-06 | 0 | 0 |
| N/S | rs1326395034 |
-0.789 | 0.999 | D | 0.587 | 0.424 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| N/S | rs1326395034 |
-0.789 | 0.999 | D | 0.587 | 0.424 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| N/S | rs1326395034 |
-0.789 | 0.999 | D | 0.587 | 0.424 | None | gnomAD-4.0.0 | 6.20078E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.94234E-04 | 5.93645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9751 | likely_pathogenic | 0.9605 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| N/C | 0.9377 | likely_pathogenic | 0.9119 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| N/D | 0.7956 | likely_pathogenic | 0.7213 | pathogenic | -1.24 | Destabilizing | 0.999 | D | 0.616 | neutral | D | 0.62595914 | None | None | N |
| N/E | 0.9947 | likely_pathogenic | 0.9928 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| N/F | 0.9961 | likely_pathogenic | 0.9952 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| N/G | 0.9348 | likely_pathogenic | 0.897 | pathogenic | -0.842 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| N/H | 0.8978 | likely_pathogenic | 0.8666 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.667019311 | None | None | N |
| N/I | 0.98 | likely_pathogenic | 0.9743 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.641 | neutral | D | 0.667744811 | None | None | N |
| N/K | 0.9934 | likely_pathogenic | 0.9913 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.627474289 | None | None | N |
| N/L | 0.9579 | likely_pathogenic | 0.9426 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| N/M | 0.9842 | likely_pathogenic | 0.9777 | pathogenic | 0.867 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| N/P | 0.9908 | likely_pathogenic | 0.9903 | pathogenic | 0.021 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| N/Q | 0.9903 | likely_pathogenic | 0.9865 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| N/R | 0.9893 | likely_pathogenic | 0.9871 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| N/S | 0.39 | ambiguous | 0.3109 | benign | -0.778 | Destabilizing | 0.999 | D | 0.587 | neutral | D | 0.584303539 | None | None | N |
| N/T | 0.8059 | likely_pathogenic | 0.7362 | pathogenic | -0.542 | Destabilizing | 0.999 | D | 0.669 | neutral | D | 0.572326058 | None | None | N |
| N/V | 0.9771 | likely_pathogenic | 0.9687 | pathogenic | 0.021 | Stabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| N/W | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| N/Y | 0.9659 | likely_pathogenic | 0.957 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.667019311 | 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.