Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2375 | 7348;7349;7350 | chr2:178774045;178774044;178774043 | chr2:179638772;179638771;179638770 |
| N2AB | 2375 | 7348;7349;7350 | chr2:178774045;178774044;178774043 | chr2:179638772;179638771;179638770 |
| N2A | 2375 | 7348;7349;7350 | chr2:178774045;178774044;178774043 | chr2:179638772;179638771;179638770 |
| N2B | 2329 | 7210;7211;7212 | chr2:178774045;178774044;178774043 | chr2:179638772;179638771;179638770 |
| Novex-1 | 2329 | 7210;7211;7212 | chr2:178774045;178774044;178774043 | chr2:179638772;179638771;179638770 |
| Novex-2 | 2329 | 7210;7211;7212 | chr2:178774045;178774044;178774043 | chr2:179638772;179638771;179638770 |
| Novex-3 | 2375 | 7348;7349;7350 | chr2:178774045;178774044;178774043 | chr2:179638772;179638771;179638770 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs954220478  |
-1.623 | 1.0 | D | 0.897 | 0.873 | 0.923053473645 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| L/P | rs954220478 |
-1.623 | 1.0 | D | 0.897 | 0.873 | 0.923053473645 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/P | rs954220478 |
-1.623 | 1.0 | D | 0.897 | 0.873 | 0.923053473645 | gnomAD-4.0.0 | 3.09795E-06 | None | None | None | None | N | None | 1.33479E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38985E-06 | 0 | 0 |
| L/V | None | None | 0.996 | D | 0.66 | 0.543 | 0.700973683922 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9269 | likely_pathogenic | 0.9279 | pathogenic | -2.272 | Highly Destabilizing | 0.998 | D | 0.734 | prob.delet. | None | None | None | None | N |
| L/C | 0.9143 | likely_pathogenic | 0.9064 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| L/D | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.818 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/E | 0.9919 | likely_pathogenic | 0.9928 | pathogenic | -2.56 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| L/F | 0.3828 | ambiguous | 0.348 | ambiguous | -1.399 | Destabilizing | 0.64 | D | 0.441 | neutral | N | 0.509461795 | None | None | N |
| L/G | 0.9865 | likely_pathogenic | 0.9861 | pathogenic | -2.8 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| L/H | 0.9729 | likely_pathogenic | 0.9749 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.72865545 | None | None | N |
| L/I | 0.3447 | ambiguous | 0.3454 | ambiguous | -0.732 | Destabilizing | 0.996 | D | 0.633 | neutral | D | 0.655128806 | None | None | N |
| L/K | 0.9833 | likely_pathogenic | 0.9844 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| L/M | 0.1649 | likely_benign | 0.1543 | benign | -0.672 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| L/N | 0.9929 | likely_pathogenic | 0.9935 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| L/P | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.72865545 | None | None | N |
| L/Q | 0.9557 | likely_pathogenic | 0.9589 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| L/R | 0.9741 | likely_pathogenic | 0.9764 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.72865545 | None | None | N |
| L/S | 0.9881 | likely_pathogenic | 0.9889 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| L/T | 0.9601 | likely_pathogenic | 0.9622 | pathogenic | -2.501 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/V | 0.4133 | ambiguous | 0.4148 | ambiguous | -1.23 | Destabilizing | 0.996 | D | 0.66 | neutral | D | 0.692576581 | None | None | N |
| L/W | 0.8469 | likely_pathogenic | 0.8495 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/Y | 0.8861 | likely_pathogenic | 0.8795 | pathogenic | -1.425 | Destabilizing | 0.998 | D | 0.835 | deleterious | 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.