Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24250 | 72973;72974;72975 | chr2:178573384;178573383;178573382 | chr2:179438111;179438110;179438109 |
| N2AB | 22609 | 68050;68051;68052 | chr2:178573384;178573383;178573382 | chr2:179438111;179438110;179438109 |
| N2A | 21682 | 65269;65270;65271 | chr2:178573384;178573383;178573382 | chr2:179438111;179438110;179438109 |
| N2B | 15185 | 45778;45779;45780 | chr2:178573384;178573383;178573382 | chr2:179438111;179438110;179438109 |
| Novex-1 | 15310 | 46153;46154;46155 | chr2:178573384;178573383;178573382 | chr2:179438111;179438110;179438109 |
| Novex-2 | 15377 | 46354;46355;46356 | chr2:178573384;178573383;178573382 | chr2:179438111;179438110;179438109 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.833 | 0.565 | 0.458464862945 | gnomAD-4.0.0 | 5.10264E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.5475E-06 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.871 | 0.557 | 0.622236899681 | gnomAD-4.0.0 | 1.85649E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.2561E-06 | 0 | 0 |
| G/S | rs767460996  |
-0.302 | 1.0 | D | 0.81 | 0.517 | 0.429666569261 | gnomAD-2.1.1 | 5.56E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.15E-05 | 0 |
| G/S | rs767460996 |
-0.302 | 1.0 | D | 0.81 | 0.517 | 0.429666569261 | gnomAD-4.0.0 | 1.85649E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.2561E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.787 | likely_pathogenic | 0.7776 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.52714958 | None | None | I |
| G/C | 0.8838 | likely_pathogenic | 0.8893 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.557877588 | None | None | I |
| G/D | 0.9669 | likely_pathogenic | 0.9779 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.529351626 | None | None | I |
| G/E | 0.9779 | likely_pathogenic | 0.9813 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/F | 0.9859 | likely_pathogenic | 0.9873 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/H | 0.9683 | likely_pathogenic | 0.9747 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/I | 0.9883 | likely_pathogenic | 0.9877 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/K | 0.977 | likely_pathogenic | 0.9797 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/L | 0.9799 | likely_pathogenic | 0.982 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/M | 0.9875 | likely_pathogenic | 0.9876 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/N | 0.9249 | likely_pathogenic | 0.9412 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/P | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/Q | 0.9637 | likely_pathogenic | 0.9683 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/R | 0.9295 | likely_pathogenic | 0.9357 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.508538346 | None | None | I |
| G/S | 0.6726 | likely_pathogenic | 0.6776 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.532883572 | None | None | I |
| G/T | 0.9553 | likely_pathogenic | 0.954 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/V | 0.9784 | likely_pathogenic | 0.9769 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.546267793 | None | None | I |
| G/W | 0.9702 | likely_pathogenic | 0.9746 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/Y | 0.9738 | likely_pathogenic | 0.9765 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
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.