Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8188 | 24787;24788;24789 | chr2:178718544;178718543;178718542 | chr2:179583271;179583270;179583269 |
| N2AB | 7871 | 23836;23837;23838 | chr2:178718544;178718543;178718542 | chr2:179583271;179583270;179583269 |
| N2A | 6944 | 21055;21056;21057 | chr2:178718544;178718543;178718542 | chr2:179583271;179583270;179583269 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/M | rs563728001  |
-0.589 | 0.999 | N | 0.593 | 0.281 | 0.28297238246 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| I/M | rs563728001 |
-0.589 | 0.999 | N | 0.593 | 0.281 | 0.28297238246 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/M | rs563728001 |
-0.589 | 0.999 | N | 0.593 | 0.281 | 0.28297238246 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| I/M | rs563728001 |
-0.589 | 0.999 | N | 0.593 | 0.281 | 0.28297238246 | gnomAD-4.0.0 | 1.36333E-05 | None | None | None | None | I | None | 0 | 1.66633E-05 | None | 0 | 0 | None | 0 | 0 | 1.78012E-05 | 0 | 0 |
| I/T | rs1184649078 |
-1.519 | 0.98 | N | 0.609 | 0.264 | 0.498065138572 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1184649078 |
-1.519 | 0.98 | N | 0.609 | 0.264 | 0.498065138572 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1184649078 |
-1.519 | 0.98 | N | 0.609 | 0.264 | 0.498065138572 | gnomAD-4.0.0 | 3.09872E-06 | None | None | None | None | I | None | 2.66937E-05 | 0 | None | 0 | 2.22896E-05 | None | 0 | 0 | 0 | 1.09813E-05 | 1.60133E-05 |
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 | 0.5501 | ambiguous | 0.4719 | ambiguous | -2.439 | Highly Destabilizing | 0.271 | N | 0.321 | neutral | None | None | None | None | I |
| I/C | 0.9234 | likely_pathogenic | 0.8955 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| I/D | 0.9937 | likely_pathogenic | 0.9892 | pathogenic | -2.749 | Highly Destabilizing | 0.998 | D | 0.776 | deleterious | None | None | None | None | I |
| I/E | 0.9813 | likely_pathogenic | 0.9716 | pathogenic | -2.438 | Highly Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | I |
| I/F | 0.3774 | ambiguous | 0.3754 | ambiguous | -1.359 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | I |
| I/G | 0.9623 | likely_pathogenic | 0.9454 | pathogenic | -3.059 | Highly Destabilizing | 0.985 | D | 0.706 | prob.neutral | None | None | None | None | I |
| I/H | 0.9757 | likely_pathogenic | 0.9629 | pathogenic | -2.605 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| I/K | 0.9594 | likely_pathogenic | 0.9411 | pathogenic | -1.91 | Destabilizing | 0.997 | D | 0.755 | deleterious | N | 0.485775012 | None | None | I |
| I/L | 0.1497 | likely_benign | 0.1314 | benign | -0.605 | Destabilizing | 0.899 | D | 0.364 | neutral | N | 0.421805112 | None | None | I |
| I/M | 0.1452 | likely_benign | 0.1335 | benign | -0.688 | Destabilizing | 0.999 | D | 0.593 | neutral | N | 0.462808912 | None | None | I |
| I/N | 0.9404 | likely_pathogenic | 0.9082 | pathogenic | -2.491 | Highly Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | I |
| I/P | 0.9873 | likely_pathogenic | 0.9794 | pathogenic | -1.202 | Destabilizing | 0.998 | D | 0.78 | deleterious | None | None | None | None | I |
| I/Q | 0.9616 | likely_pathogenic | 0.9454 | pathogenic | -2.164 | Highly Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | I |
| I/R | 0.9325 | likely_pathogenic | 0.9066 | pathogenic | -1.939 | Destabilizing | 0.997 | D | 0.782 | deleterious | N | 0.497295902 | None | None | I |
| I/S | 0.8457 | likely_pathogenic | 0.7867 | pathogenic | -3.194 | Highly Destabilizing | 0.971 | D | 0.64 | neutral | None | None | None | None | I |
| I/T | 0.5552 | ambiguous | 0.4523 | ambiguous | -2.706 | Highly Destabilizing | 0.98 | D | 0.609 | neutral | N | 0.460580413 | None | None | I |
| I/V | 0.0802 | likely_benign | 0.0708 | benign | -1.202 | Destabilizing | 0.899 | D | 0.347 | neutral | N | 0.43921465 | None | None | I |
| I/W | 0.9788 | likely_pathogenic | 0.9708 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| I/Y | 0.9167 | likely_pathogenic | 0.8951 | pathogenic | -1.439 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | 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.