Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27332 | 82219;82220;82221 | chr2:178564138;178564137;178564136 | chr2:179428865;179428864;179428863 |
| N2AB | 25691 | 77296;77297;77298 | chr2:178564138;178564137;178564136 | chr2:179428865;179428864;179428863 |
| N2A | 24764 | 74515;74516;74517 | chr2:178564138;178564137;178564136 | chr2:179428865;179428864;179428863 |
| N2B | 18267 | 55024;55025;55026 | chr2:178564138;178564137;178564136 | chr2:179428865;179428864;179428863 |
| Novex-1 | 18392 | 55399;55400;55401 | chr2:178564138;178564137;178564136 | chr2:179428865;179428864;179428863 |
| Novex-2 | 18459 | 55600;55601;55602 | chr2:178564138;178564137;178564136 | chr2:179428865;179428864;179428863 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 1.0 | N | 0.848 | 0.444 | 0.42538462244 | gnomAD-4.0.0 | 6.84224E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65673E-05 |
| T/R | rs1485146094  |
-0.401 | 1.0 | N | 0.854 | 0.443 | 0.573202078397 | 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 |
| T/R | rs1485146094 |
-0.401 | 1.0 | N | 0.854 | 0.443 | 0.573202078397 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/R | rs1485146094 |
-0.401 | 1.0 | N | 0.854 | 0.443 | 0.573202078397 | gnomAD-4.0.0 | 1.85919E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54294E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1368 | likely_benign | 0.1271 | benign | -1.262 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.434427692 | None | None | N |
| T/C | 0.5492 | ambiguous | 0.5531 | ambiguous | -1.08 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/D | 0.9367 | likely_pathogenic | 0.9198 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/E | 0.9292 | likely_pathogenic | 0.9154 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| T/F | 0.8652 | likely_pathogenic | 0.8533 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| T/G | 0.6385 | likely_pathogenic | 0.5986 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/H | 0.8284 | likely_pathogenic | 0.8044 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| T/I | 0.7332 | likely_pathogenic | 0.7308 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.466870609 | None | None | N |
| T/K | 0.9432 | likely_pathogenic | 0.9299 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.483026307 | None | None | N |
| T/L | 0.4747 | ambiguous | 0.4539 | ambiguous | -0.146 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/M | 0.1932 | likely_benign | 0.1959 | benign | -0.091 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/N | 0.5374 | ambiguous | 0.4885 | ambiguous | -1.393 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/P | 0.9628 | likely_pathogenic | 0.9494 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.471670002 | None | None | N |
| T/Q | 0.8441 | likely_pathogenic | 0.8186 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/R | 0.9242 | likely_pathogenic | 0.9002 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.466870609 | None | None | N |
| T/S | 0.2135 | likely_benign | 0.1996 | benign | -1.633 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.441180306 | None | None | N |
| T/V | 0.4466 | ambiguous | 0.4506 | ambiguous | -0.487 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| T/W | 0.9782 | likely_pathogenic | 0.9747 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| T/Y | 0.8636 | likely_pathogenic | 0.8452 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.864 | 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.