Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19374 | 58345;58346;58347 | chr2:178594374;178594373;178594372 | chr2:179459101;179459100;179459099 |
| N2AB | 17733 | 53422;53423;53424 | chr2:178594374;178594373;178594372 | chr2:179459101;179459100;179459099 |
| N2A | 16806 | 50641;50642;50643 | chr2:178594374;178594373;178594372 | chr2:179459101;179459100;179459099 |
| N2B | 10309 | 31150;31151;31152 | chr2:178594374;178594373;178594372 | chr2:179459101;179459100;179459099 |
| Novex-1 | 10434 | 31525;31526;31527 | chr2:178594374;178594373;178594372 | chr2:179459101;179459100;179459099 |
| Novex-2 | 10501 | 31726;31727;31728 | chr2:178594374;178594373;178594372 | chr2:179459101;179459100;179459099 |
| 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/A | None | None | 0.997 | N | 0.569 | 0.236 | 0.254761474806 | gnomAD-4.0.0 | 1.63015E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79736E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs794729463  |
-1.335 | 0.997 | N | 0.561 | 0.256 | 0.204665344411 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29463E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs794729463 |
-1.335 | 0.997 | N | 0.561 | 0.256 | 0.204665344411 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs794729463 |
-1.335 | 0.997 | N | 0.561 | 0.256 | 0.204665344411 | gnomAD-4.0.0 | 6.53395E-06 | None | None | None | None | N | None | 8.55315E-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 | 0.6221 | likely_pathogenic | 0.5262 | ambiguous | -0.886 | Destabilizing | 0.997 | D | 0.569 | neutral | N | 0.515321066 | None | None | N |
| T/C | 0.8881 | likely_pathogenic | 0.873 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.734 | deleterious | None | None | None | None | N |
| T/D | 0.9853 | likely_pathogenic | 0.9791 | pathogenic | -0.774 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| T/E | 0.9851 | likely_pathogenic | 0.9791 | pathogenic | -0.624 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| T/F | 0.9795 | likely_pathogenic | 0.9735 | pathogenic | -0.568 | Destabilizing | 0.999 | D | 0.868 | deleterious | None | None | None | None | N |
| T/G | 0.8042 | likely_pathogenic | 0.7509 | pathogenic | -1.285 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/H | 0.9713 | likely_pathogenic | 0.958 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/I | 0.9154 | likely_pathogenic | 0.9049 | pathogenic | 0.138 | Stabilizing | 0.999 | D | 0.783 | deleterious | N | 0.487882288 | None | None | N |
| T/K | 0.9793 | likely_pathogenic | 0.9707 | pathogenic | -0.649 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| T/L | 0.6997 | likely_pathogenic | 0.6796 | pathogenic | 0.138 | Stabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| T/M | 0.6546 | likely_pathogenic | 0.6162 | pathogenic | 0.13 | Stabilizing | 1.0 | D | 0.731 | deleterious | None | None | None | None | N |
| T/N | 0.874 | likely_pathogenic | 0.8352 | pathogenic | -1.095 | Destabilizing | 0.999 | D | 0.685 | prob.delet. | N | 0.50345901 | None | None | N |
| T/P | 0.8483 | likely_pathogenic | 0.8063 | pathogenic | -0.169 | Destabilizing | 0.999 | D | 0.778 | deleterious | N | 0.46922551 | None | None | N |
| T/Q | 0.9592 | likely_pathogenic | 0.9405 | pathogenic | -0.92 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| T/R | 0.9722 | likely_pathogenic | 0.9598 | pathogenic | -0.765 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| T/S | 0.4066 | ambiguous | 0.3129 | benign | -1.354 | Destabilizing | 0.997 | D | 0.561 | neutral | N | 0.426816647 | None | None | N |
| T/V | 0.7374 | likely_pathogenic | 0.7311 | pathogenic | -0.169 | Destabilizing | 0.998 | D | 0.578 | neutral | None | None | None | None | N |
| T/W | 0.9959 | likely_pathogenic | 0.9939 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| T/Y | 0.9891 | likely_pathogenic | 0.9834 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | 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.