Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34142 | 102649;102650;102651 | chr2:178534191;178534190;178534189 | chr2:179398918;179398917;179398916 |
| N2AB | 32501 | 97726;97727;97728 | chr2:178534191;178534190;178534189 | chr2:179398918;179398917;179398916 |
| N2A | 31574 | 94945;94946;94947 | chr2:178534191;178534190;178534189 | chr2:179398918;179398917;179398916 |
| N2B | 25077 | 75454;75455;75456 | chr2:178534191;178534190;178534189 | chr2:179398918;179398917;179398916 |
| Novex-1 | 25202 | 75829;75830;75831 | chr2:178534191;178534190;178534189 | chr2:179398918;179398917;179398916 |
| Novex-2 | 25269 | 76030;76031;76032 | chr2:178534191;178534190;178534189 | chr2:179398918;179398917;179398916 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs528796532  |
-0.933 | 0.817 | N | 0.389 | 0.166 | 0.592397689306 | gnomAD-2.1.1 | 4.82E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.92157E-04 | None | 0 | 0 | 0 |
| I/L | rs528796532 |
-0.933 | 0.817 | N | 0.389 | 0.166 | 0.592397689306 | 1000 genomes | None | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/L | rs528796532 |
-0.933 | 0.817 | N | 0.389 | 0.166 | 0.592397689306 | gnomAD-4.0.0 | 1.71038E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.55049E-04 | 4.96903E-05 |
| I/T | rs1690422434 |
None | 0.98 | D | 0.717 | 0.477 | 0.780588466267 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs1690422434 |
None | 0.98 | D | 0.717 | 0.477 | 0.780588466267 | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9237 | likely_pathogenic | 0.9213 | pathogenic | -2.245 | Highly Destabilizing | 0.964 | D | 0.689 | prob.neutral | None | None | None | None | I |
| I/C | 0.9684 | likely_pathogenic | 0.9753 | pathogenic | -1.366 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| I/D | 0.9906 | likely_pathogenic | 0.9911 | pathogenic | -2.193 | Highly Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | I |
| I/E | 0.9736 | likely_pathogenic | 0.9717 | pathogenic | -2.074 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | I |
| I/F | 0.6302 | likely_pathogenic | 0.6396 | pathogenic | -1.418 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | I |
| I/G | 0.9835 | likely_pathogenic | 0.9823 | pathogenic | -2.702 | Highly Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | I |
| I/H | 0.9802 | likely_pathogenic | 0.9797 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| I/K | 0.953 | likely_pathogenic | 0.9404 | pathogenic | -1.479 | Destabilizing | 0.999 | D | 0.812 | deleterious | D | 0.530861814 | None | None | I |
| I/L | 0.2977 | likely_benign | 0.2808 | benign | -0.975 | Destabilizing | 0.817 | D | 0.389 | neutral | N | 0.466135545 | None | None | I |
| I/M | 0.2571 | likely_benign | 0.2432 | benign | -0.766 | Destabilizing | 0.997 | D | 0.644 | neutral | N | 0.511139903 | None | None | I |
| I/N | 0.9016 | likely_pathogenic | 0.8964 | pathogenic | -1.492 | Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | I |
| I/P | 0.9703 | likely_pathogenic | 0.972 | pathogenic | -1.374 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | I |
| I/Q | 0.9571 | likely_pathogenic | 0.9522 | pathogenic | -1.536 | Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | I |
| I/R | 0.9394 | likely_pathogenic | 0.9256 | pathogenic | -1.051 | Destabilizing | 0.999 | D | 0.805 | deleterious | D | 0.531035172 | None | None | I |
| I/S | 0.9363 | likely_pathogenic | 0.9358 | pathogenic | -2.172 | Highly Destabilizing | 0.998 | D | 0.768 | deleterious | None | None | None | None | I |
| I/T | 0.9242 | likely_pathogenic | 0.9113 | pathogenic | -1.926 | Destabilizing | 0.98 | D | 0.717 | prob.delet. | D | 0.530168381 | None | None | I |
| I/V | 0.2242 | likely_benign | 0.2165 | benign | -1.374 | Destabilizing | 0.219 | N | 0.197 | neutral | N | 0.453475679 | None | None | I |
| I/W | 0.9808 | likely_pathogenic | 0.9846 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| I/Y | 0.9299 | likely_pathogenic | 0.9338 | pathogenic | -1.441 | Destabilizing | 0.999 | D | 0.785 | 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.