Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5412 | 16459;16460;16461 | chr2:178732942;178732941;178732940 | chr2:179597669;179597668;179597667 |
| N2AB | 5095 | 15508;15509;15510 | chr2:178732942;178732941;178732940 | chr2:179597669;179597668;179597667 |
| N2A | 4168 | 12727;12728;12729 | chr2:178732942;178732941;178732940 | chr2:179597669;179597668;179597667 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs1282477272  |
-1.728 | 1.0 | N | 0.602 | 0.403 | 0.221019684889 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/G | rs1282477272 |
-1.728 | 1.0 | N | 0.602 | 0.403 | 0.221019684889 | gnomAD-4.0.0 | 2.73727E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59801E-06 | 0 | 0 |
| A/T | rs727504442 |
-1.517 | 1.0 | N | 0.724 | 0.359 | 0.221734844693 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.29266E-04 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs727504442 |
-1.517 | 1.0 | N | 0.724 | 0.359 | 0.221734844693 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20645E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs727504442 |
-1.517 | 1.0 | N | 0.724 | 0.359 | 0.221734844693 | gnomAD-4.0.0 | 4.95824E-06 | None | None | None | None | N | None | 8.0094E-05 | 1.66772E-05 | None | 0 | 0 | None | 0 | 0 | 8.47633E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6875 | likely_pathogenic | 0.6854 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/D | 0.9824 | likely_pathogenic | 0.9827 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.455807473 | None | None | N |
| A/E | 0.9696 | likely_pathogenic | 0.9691 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/F | 0.856 | likely_pathogenic | 0.8501 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/G | 0.3125 | likely_benign | 0.3291 | benign | -1.334 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.435353199 | None | None | N |
| A/H | 0.9702 | likely_pathogenic | 0.9713 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/I | 0.6692 | likely_pathogenic | 0.6584 | pathogenic | 0.447 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/K | 0.9906 | likely_pathogenic | 0.9908 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| A/L | 0.629 | likely_pathogenic | 0.6106 | pathogenic | 0.447 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/M | 0.7024 | likely_pathogenic | 0.7013 | pathogenic | 0.15 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/N | 0.9403 | likely_pathogenic | 0.9408 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/P | 0.9585 | likely_pathogenic | 0.9507 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.831 | deleterious | N | 0.462137349 | None | None | N |
| A/Q | 0.9516 | likely_pathogenic | 0.9546 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/R | 0.9746 | likely_pathogenic | 0.9754 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/S | 0.2217 | likely_benign | 0.225 | benign | -1.573 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.389271406 | None | None | N |
| A/T | 0.2892 | likely_benign | 0.2674 | benign | -1.243 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.489531614 | None | None | N |
| A/V | 0.3306 | likely_benign | 0.3115 | benign | 0.06 | Stabilizing | 1.0 | D | 0.635 | neutral | N | 0.465289317 | None | None | N |
| A/W | 0.989 | likely_pathogenic | 0.9895 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/Y | 0.947 | likely_pathogenic | 0.9412 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.863 | 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.