Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15399 | 46420;46421;46422 | chr2:178620326;178620325;178620324 | chr2:179485053;179485052;179485051 |
| N2AB | 13758 | 41497;41498;41499 | chr2:178620326;178620325;178620324 | chr2:179485053;179485052;179485051 |
| N2A | 12831 | 38716;38717;38718 | chr2:178620326;178620325;178620324 | chr2:179485053;179485052;179485051 |
| N2B | 6334 | 19225;19226;19227 | chr2:178620326;178620325;178620324 | chr2:179485053;179485052;179485051 |
| Novex-1 | 6459 | 19600;19601;19602 | chr2:178620326;178620325;178620324 | chr2:179485053;179485052;179485051 |
| Novex-2 | 6526 | 19801;19802;19803 | chr2:178620326;178620325;178620324 | chr2:179485053;179485052;179485051 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1332002805  |
-0.248 | 1.0 | D | 0.442 | 0.625 | 0.494031935134 | gnomAD-2.1.1 | 4.28E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.37E-06 | 0 |
| D/E | rs1332002805 |
-0.248 | 1.0 | D | 0.442 | 0.625 | 0.494031935134 | gnomAD-4.0.0 | 1.65094E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.96356E-06 | 0 | 0 |
| D/G | None | None | 1.0 | D | 0.692 | 0.772 | 0.634824181903 | gnomAD-4.0.0 | 1.64878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.95961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9666 | likely_pathogenic | 0.982 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.674 | neutral | D | 0.638167321 | None | None | N |
| D/C | 0.9977 | likely_pathogenic | 0.9988 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| D/E | 0.9157 | likely_pathogenic | 0.9525 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.442 | neutral | D | 0.626390775 | None | None | N |
| D/F | 0.9961 | likely_pathogenic | 0.9975 | pathogenic | 0.18 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/G | 0.9467 | likely_pathogenic | 0.9641 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.714147918 | None | None | N |
| D/H | 0.9828 | likely_pathogenic | 0.9888 | pathogenic | 0.16 | Stabilizing | 1.0 | D | 0.64 | neutral | D | 0.663564899 | None | None | N |
| D/I | 0.9943 | likely_pathogenic | 0.9968 | pathogenic | 0.444 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| D/K | 0.9905 | likely_pathogenic | 0.9939 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/L | 0.9916 | likely_pathogenic | 0.9943 | pathogenic | 0.444 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/M | 0.9967 | likely_pathogenic | 0.9982 | pathogenic | 0.614 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| D/N | 0.5444 | ambiguous | 0.6519 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.626 | neutral | D | 0.545636531 | None | None | N |
| D/P | 0.9774 | likely_pathogenic | 0.9863 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| D/Q | 0.9906 | likely_pathogenic | 0.9946 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| D/R | 0.9938 | likely_pathogenic | 0.996 | pathogenic | 0.279 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| D/S | 0.8806 | likely_pathogenic | 0.9309 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| D/T | 0.9746 | likely_pathogenic | 0.9861 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/V | 0.9847 | likely_pathogenic | 0.9912 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.653296513 | None | None | N |
| D/W | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | 0.439 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| D/Y | 0.9586 | likely_pathogenic | 0.9714 | pathogenic | 0.454 | Stabilizing | 1.0 | D | 0.665 | neutral | D | 0.713171536 | 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.