Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27812 | 83659;83660;83661 | chr2:178562698;178562697;178562696 | chr2:179427425;179427424;179427423 |
| N2AB | 26171 | 78736;78737;78738 | chr2:178562698;178562697;178562696 | chr2:179427425;179427424;179427423 |
| N2A | 25244 | 75955;75956;75957 | chr2:178562698;178562697;178562696 | chr2:179427425;179427424;179427423 |
| N2B | 18747 | 56464;56465;56466 | chr2:178562698;178562697;178562696 | chr2:179427425;179427424;179427423 |
| Novex-1 | 18872 | 56839;56840;56841 | chr2:178562698;178562697;178562696 | chr2:179427425;179427424;179427423 |
| Novex-2 | 18939 | 57040;57041;57042 | chr2:178562698;178562697;178562696 | chr2:179427425;179427424;179427423 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.941 | N | 0.594 | 0.355 | 0.552451585512 | gnomAD-4.0.0 | 6.92527E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.05343E-07 | 0 | 0 |
| A/S | rs727504186  |
-0.353 | 0.253 | N | 0.43 | 0.153 | 0.301789629655 | gnomAD-2.1.1 | 1.71E-05 | None | None | None | None | N | None | 0 | 3.17E-05 | None | 0 | 0 | None | 3.77E-05 | None | 0 | 1.85E-05 | 0 |
| A/S | rs727504186 |
-0.353 | 0.253 | N | 0.43 | 0.153 | 0.301789629655 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| A/S | rs727504186 |
-0.353 | 0.253 | N | 0.43 | 0.153 | 0.301789629655 | gnomAD-4.0.0 | 6.89373E-06 | None | None | None | None | N | None | 0 | 7.03878E-05 | None | 0 | 0 | None | 0 | 0 | 3.41177E-06 | 1.1449E-05 | 3.24739E-05 |
| A/V | rs1041573926 |
None | 0.044 | N | 0.31 | 0.161 | 0.368554958709 | gnomAD-4.0.0 | 6.92527E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.68033E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8133 | likely_pathogenic | 0.8185 | pathogenic | -0.835 | Destabilizing | 0.994 | D | 0.513 | neutral | None | None | None | None | N |
| A/D | 0.9522 | likely_pathogenic | 0.9743 | pathogenic | -0.333 | Destabilizing | 0.941 | D | 0.594 | neutral | N | 0.500354401 | None | None | N |
| A/E | 0.9284 | likely_pathogenic | 0.9605 | pathogenic | -0.443 | Destabilizing | 0.984 | D | 0.516 | neutral | None | None | None | None | N |
| A/F | 0.8239 | likely_pathogenic | 0.8438 | pathogenic | -0.787 | Destabilizing | 0.988 | D | 0.6 | neutral | None | None | None | None | N |
| A/G | 0.378 | ambiguous | 0.4101 | ambiguous | -0.553 | Destabilizing | 0.001 | N | 0.323 | neutral | N | 0.481576639 | None | None | N |
| A/H | 0.9333 | likely_pathogenic | 0.9513 | pathogenic | -0.409 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| A/I | 0.7045 | likely_pathogenic | 0.6933 | pathogenic | -0.34 | Destabilizing | 0.932 | D | 0.461 | neutral | None | None | None | None | N |
| A/K | 0.9738 | likely_pathogenic | 0.9832 | pathogenic | -0.754 | Destabilizing | 0.988 | D | 0.517 | neutral | None | None | None | None | N |
| A/L | 0.5877 | likely_pathogenic | 0.6104 | pathogenic | -0.34 | Destabilizing | 0.919 | D | 0.448 | neutral | None | None | None | None | N |
| A/M | 0.63 | likely_pathogenic | 0.6436 | pathogenic | -0.545 | Destabilizing | 0.997 | D | 0.523 | neutral | None | None | None | None | N |
| A/N | 0.7278 | likely_pathogenic | 0.7733 | pathogenic | -0.477 | Destabilizing | 0.713 | D | 0.587 | neutral | None | None | None | None | N |
| A/P | 0.8761 | likely_pathogenic | 0.8947 | pathogenic | -0.339 | Destabilizing | 0.99 | D | 0.492 | neutral | D | 0.523810051 | None | None | N |
| A/Q | 0.8535 | likely_pathogenic | 0.8872 | pathogenic | -0.691 | Destabilizing | 0.998 | D | 0.513 | neutral | None | None | None | None | N |
| A/R | 0.9386 | likely_pathogenic | 0.9559 | pathogenic | -0.31 | Destabilizing | 0.994 | D | 0.491 | neutral | None | None | None | None | N |
| A/S | 0.1583 | likely_benign | 0.1848 | benign | -0.757 | Destabilizing | 0.253 | N | 0.43 | neutral | N | 0.472359723 | None | None | N |
| A/T | 0.2521 | likely_benign | 0.2692 | benign | -0.776 | Destabilizing | 0.75 | D | 0.413 | neutral | N | 0.467532693 | None | None | N |
| A/V | 0.4153 | ambiguous | 0.4073 | ambiguous | -0.339 | Destabilizing | 0.044 | N | 0.31 | neutral | N | 0.493545859 | None | None | N |
| A/W | 0.9744 | likely_pathogenic | 0.9805 | pathogenic | -0.944 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/Y | 0.8918 | likely_pathogenic | 0.9177 | pathogenic | -0.601 | Destabilizing | 0.994 | D | 0.604 | neutral | None | None | 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.