Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28285 | 85078;85079;85080 | chr2:178561279;178561278;178561277 | chr2:179426006;179426005;179426004 |
| N2AB | 26644 | 80155;80156;80157 | chr2:178561279;178561278;178561277 | chr2:179426006;179426005;179426004 |
| N2A | 25717 | 77374;77375;77376 | chr2:178561279;178561278;178561277 | chr2:179426006;179426005;179426004 |
| N2B | 19220 | 57883;57884;57885 | chr2:178561279;178561278;178561277 | chr2:179426006;179426005;179426004 |
| Novex-1 | 19345 | 58258;58259;58260 | chr2:178561279;178561278;178561277 | chr2:179426006;179426005;179426004 |
| Novex-2 | 19412 | 58459;58460;58461 | chr2:178561279;178561278;178561277 | chr2:179426006;179426005;179426004 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.976 | N | 0.664 | 0.378 | 0.336647302497 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 0 | 0 |
| T/S | rs577272800  |
-0.49 | 0.979 | N | 0.415 | 0.31 | 0.236890367714 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs577272800 |
-0.49 | 0.979 | N | 0.415 | 0.31 | 0.236890367714 | 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 |
| T/S | rs577272800 |
-0.49 | 0.979 | N | 0.415 | 0.31 | 0.236890367714 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/S | rs577272800 |
-0.49 | 0.979 | N | 0.415 | 0.31 | 0.236890367714 | gnomAD-4.0.0 | 6.56659E-06 | None | None | None | None | I | None | 2.40535E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1607 | likely_benign | 0.1867 | benign | -0.743 | Destabilizing | 0.958 | D | 0.422 | neutral | N | 0.499187185 | None | None | I |
| T/C | 0.5572 | ambiguous | 0.6136 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| T/D | 0.7938 | likely_pathogenic | 0.8248 | pathogenic | -0.762 | Destabilizing | 0.998 | D | 0.768 | deleterious | None | None | None | None | I |
| T/E | 0.6947 | likely_pathogenic | 0.7243 | pathogenic | -0.782 | Destabilizing | 0.995 | D | 0.763 | deleterious | None | None | None | None | I |
| T/F | 0.5467 | ambiguous | 0.5958 | pathogenic | -0.962 | Destabilizing | 0.991 | D | 0.824 | deleterious | None | None | None | None | I |
| T/G | 0.511 | ambiguous | 0.5809 | pathogenic | -0.968 | Destabilizing | 0.995 | D | 0.691 | prob.neutral | None | None | None | None | I |
| T/H | 0.5525 | ambiguous | 0.5957 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| T/I | 0.2154 | likely_benign | 0.2309 | benign | -0.24 | Destabilizing | 0.976 | D | 0.664 | neutral | N | 0.506208512 | None | None | I |
| T/K | 0.4648 | ambiguous | 0.4652 | ambiguous | -0.803 | Destabilizing | 0.994 | D | 0.739 | prob.delet. | N | 0.485184306 | None | None | I |
| T/L | 0.1636 | likely_benign | 0.1759 | benign | -0.24 | Destabilizing | 0.086 | N | 0.315 | neutral | None | None | None | None | I |
| T/M | 0.1317 | likely_benign | 0.1419 | benign | 0.209 | Stabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | I |
| T/N | 0.2964 | likely_benign | 0.3521 | ambiguous | -0.771 | Destabilizing | 0.998 | D | 0.657 | neutral | None | None | None | None | I |
| T/P | 0.6472 | likely_pathogenic | 0.6881 | pathogenic | -0.377 | Destabilizing | 0.998 | D | 0.778 | deleterious | D | 0.533055518 | None | None | I |
| T/Q | 0.4821 | ambiguous | 0.513 | ambiguous | -1.052 | Destabilizing | 0.998 | D | 0.788 | deleterious | None | None | None | None | I |
| T/R | 0.3903 | ambiguous | 0.3984 | ambiguous | -0.478 | Destabilizing | 0.994 | D | 0.777 | deleterious | N | 0.489894794 | None | None | I |
| T/S | 0.1974 | likely_benign | 0.2302 | benign | -0.957 | Destabilizing | 0.979 | D | 0.415 | neutral | N | 0.46805433 | None | None | I |
| T/V | 0.1605 | likely_benign | 0.1726 | benign | -0.377 | Destabilizing | 0.938 | D | 0.425 | neutral | None | None | None | None | I |
| T/W | 0.8377 | likely_pathogenic | 0.8618 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| T/Y | 0.6135 | likely_pathogenic | 0.6601 | pathogenic | -0.653 | Destabilizing | 0.995 | D | 0.829 | 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.