Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1344 | 4255;4256;4257 | chr2:178779052;178779051;178779050 | chr2:179643779;179643778;179643777 |
| N2AB | 1344 | 4255;4256;4257 | chr2:178779052;178779051;178779050 | chr2:179643779;179643778;179643777 |
| N2A | 1344 | 4255;4256;4257 | chr2:178779052;178779051;178779050 | chr2:179643779;179643778;179643777 |
| N2B | 1298 | 4117;4118;4119 | chr2:178779052;178779051;178779050 | chr2:179643779;179643778;179643777 |
| Novex-1 | 1298 | 4117;4118;4119 | chr2:178779052;178779051;178779050 | chr2:179643779;179643778;179643777 |
| Novex-2 | 1298 | 4117;4118;4119 | chr2:178779052;178779051;178779050 | chr2:179643779;179643778;179643777 |
| Novex-3 | 1344 | 4255;4256;4257 | chr2:178779052;178779051;178779050 | chr2:179643779;179643778;179643777 |
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 | rs1244864946  |
None | 1.0 | N | 0.503 | 0.236 | 0.170165803431 | 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 |
| D/E | rs1244864946 |
None | 1.0 | N | 0.503 | 0.236 | 0.170165803431 | gnomAD-4.0.0 | 3.09801E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2374E-06 | 0 | 0 |
| D/G | rs1203373476 |
None | 1.0 | N | 0.681 | 0.467 | 0.16115917748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1203373476 |
None | 1.0 | N | 0.681 | 0.467 | 0.16115917748 | gnomAD-4.0.0 | 3.09803E-06 | None | None | None | None | N | None | 0 | 6.66711E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60041E-05 |
| D/V | None | None | 1.0 | N | 0.745 | 0.526 | 0.47409059586 | gnomAD-4.0.0 | 6.84137E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99339E-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 | 0.9036 | likely_pathogenic | 0.9112 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.436120213 | None | None | N |
| D/C | 0.9816 | likely_pathogenic | 0.9836 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| D/E | 0.8556 | likely_pathogenic | 0.8605 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.503 | neutral | N | 0.447298395 | None | None | N |
| D/F | 0.9912 | likely_pathogenic | 0.9918 | pathogenic | 0.079 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/G | 0.6753 | likely_pathogenic | 0.6964 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.446996539 | None | None | N |
| D/H | 0.9605 | likely_pathogenic | 0.9639 | pathogenic | 0.411 | Stabilizing | 1.0 | D | 0.665 | neutral | N | 0.491968631 | None | None | N |
| D/I | 0.9842 | likely_pathogenic | 0.9849 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/K | 0.9812 | likely_pathogenic | 0.9816 | pathogenic | 0.294 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| D/L | 0.97 | likely_pathogenic | 0.9722 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/M | 0.9887 | likely_pathogenic | 0.9897 | pathogenic | 0.285 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/N | 0.4106 | ambiguous | 0.4378 | ambiguous | -0.247 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.449310545 | None | None | N |
| D/P | 0.9875 | likely_pathogenic | 0.9884 | pathogenic | 0.156 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/Q | 0.973 | likely_pathogenic | 0.975 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/R | 0.9817 | likely_pathogenic | 0.9824 | pathogenic | 0.605 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| D/S | 0.7268 | likely_pathogenic | 0.7509 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| D/T | 0.8672 | likely_pathogenic | 0.8807 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/V | 0.9473 | likely_pathogenic | 0.9499 | pathogenic | 0.156 | Stabilizing | 1.0 | D | 0.745 | deleterious | N | 0.521053103 | None | None | N |
| D/W | 0.9972 | likely_pathogenic | 0.9974 | pathogenic | 0.269 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/Y | 0.9133 | likely_pathogenic | 0.9164 | pathogenic | 0.334 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.443133345 | 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.