Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13992 | 42199;42200;42201 | chr2:178635215;178635214;178635213 | chr2:179499942;179499941;179499940 |
| N2AB | 12351 | 37276;37277;37278 | chr2:178635215;178635214;178635213 | chr2:179499942;179499941;179499940 |
| N2A | 11424 | 34495;34496;34497 | chr2:178635215;178635214;178635213 | chr2:179499942;179499941;179499940 |
| N2B | 4927 | 15004;15005;15006 | chr2:178635215;178635214;178635213 | chr2:179499942;179499941;179499940 |
| Novex-1 | 5052 | 15379;15380;15381 | chr2:178635215;178635214;178635213 | chr2:179499942;179499941;179499940 |
| Novex-2 | 5119 | 15580;15581;15582 | chr2:178635215;178635214;178635213 | chr2:179499942;179499941;179499940 |
| 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/G | None | None | 1.0 | N | 0.767 | 0.479 | 0.15556083564 | gnomAD-4.0.0 | 5.47514E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19723E-06 | 0 | 0 |
| D/H | rs778681628  |
0.655 | 1.0 | N | 0.79 | 0.398 | 0.17258766438 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs778681628 |
0.655 | 1.0 | N | 0.79 | 0.398 | 0.17258766438 | gnomAD-4.0.0 | 3.18458E-06 | None | None | None | None | N | None | 0 | 4.57498E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | None | None | 1.0 | N | 0.755 | 0.557 | 0.429435026966 | gnomAD-4.0.0 | 6.84392E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99654E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7665 | likely_pathogenic | 0.6158 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.72 | deleterious | N | 0.514452765 | None | None | N |
| D/C | 0.9754 | likely_pathogenic | 0.9534 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/E | 0.5937 | likely_pathogenic | 0.4454 | ambiguous | -0.311 | Destabilizing | 0.999 | D | 0.473 | neutral | N | 0.476610145 | None | None | N |
| D/F | 0.9592 | likely_pathogenic | 0.9183 | pathogenic | -0.031 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/G | 0.6555 | likely_pathogenic | 0.5209 | ambiguous | -0.193 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.45564076 | None | None | N |
| D/H | 0.8844 | likely_pathogenic | 0.795 | pathogenic | 0.471 | Stabilizing | 1.0 | D | 0.79 | deleterious | N | 0.519598092 | None | None | N |
| D/I | 0.9482 | likely_pathogenic | 0.8825 | pathogenic | 0.299 | Stabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| D/K | 0.9493 | likely_pathogenic | 0.8866 | pathogenic | 0.431 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/L | 0.92 | likely_pathogenic | 0.8494 | pathogenic | 0.299 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/M | 0.9733 | likely_pathogenic | 0.9391 | pathogenic | 0.146 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/N | 0.3917 | ambiguous | 0.2875 | benign | 0.101 | Stabilizing | 1.0 | D | 0.738 | deleterious | N | 0.425125853 | None | None | N |
| D/P | 0.9757 | likely_pathogenic | 0.9547 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.737 | deleterious | None | None | None | None | N |
| D/Q | 0.9286 | likely_pathogenic | 0.8517 | pathogenic | 0.127 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/R | 0.96 | likely_pathogenic | 0.9112 | pathogenic | 0.685 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/S | 0.6269 | likely_pathogenic | 0.4623 | ambiguous | 0.022 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/T | 0.8053 | likely_pathogenic | 0.6954 | pathogenic | 0.147 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/V | 0.87 | likely_pathogenic | 0.7464 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.755 | deleterious | N | 0.476063823 | None | None | N |
| D/W | 0.9934 | likely_pathogenic | 0.9859 | pathogenic | 0.05 | Stabilizing | 1.0 | D | 0.737 | deleterious | None | None | None | None | N |
| D/Y | 0.8239 | likely_pathogenic | 0.7023 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.769 | deleterious | N | 0.518754595 | 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.