Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6066 | 18421;18422;18423 | chr2:178730204;178730203;178730202 | chr2:179594931;179594930;179594929 |
| N2AB | 5749 | 17470;17471;17472 | chr2:178730204;178730203;178730202 | chr2:179594931;179594930;179594929 |
| N2A | 4822 | 14689;14690;14691 | chr2:178730204;178730203;178730202 | chr2:179594931;179594930;179594929 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs762434229  |
None | 1.0 | N | 0.729 | 0.429 | 0.638815175438 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/C | rs762434229 |
None | 1.0 | N | 0.729 | 0.429 | 0.638815175438 | gnomAD-4.0.0 | 1.85947E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54311E-06 | 0 | 0 |
| S/F | rs762434229 |
-0.982 | 0.998 | N | 0.745 | 0.426 | 0.768949010136 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 2.03465E-04 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs762434229 |
-0.982 | 0.998 | N | 0.745 | 0.426 | 0.768949010136 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.31027E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs762434229 |
-0.982 | 0.998 | N | 0.745 | 0.426 | 0.768949010136 | gnomAD-4.0.0 | 6.19824E-06 | None | None | None | None | N | None | 0 | 1.50175E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60179E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0727 | likely_benign | 0.0668 | benign | -0.876 | Destabilizing | 0.973 | D | 0.451 | neutral | N | 0.520975681 | None | None | N |
| S/C | 0.139 | likely_benign | 0.1149 | benign | -0.509 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.504610413 | None | None | N |
| S/D | 0.5292 | ambiguous | 0.5854 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| S/E | 0.5186 | ambiguous | 0.5542 | ambiguous | -0.247 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| S/F | 0.1747 | likely_benign | 0.1729 | benign | -0.958 | Destabilizing | 0.998 | D | 0.745 | deleterious | N | 0.493254108 | None | None | N |
| S/G | 0.1396 | likely_benign | 0.1336 | benign | -1.161 | Destabilizing | 0.999 | D | 0.489 | neutral | None | None | None | None | N |
| S/H | 0.3589 | ambiguous | 0.3785 | ambiguous | -1.575 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| S/I | 0.1696 | likely_benign | 0.1588 | benign | -0.206 | Destabilizing | 0.983 | D | 0.623 | neutral | None | None | None | None | N |
| S/K | 0.6697 | likely_pathogenic | 0.7042 | pathogenic | -0.542 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| S/L | 0.1119 | likely_benign | 0.104 | benign | -0.206 | Destabilizing | 0.983 | D | 0.558 | neutral | None | None | None | None | N |
| S/M | 0.1949 | likely_benign | 0.1775 | benign | 0.062 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| S/N | 0.1866 | likely_benign | 0.2067 | benign | -0.621 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| S/P | 0.8602 | likely_pathogenic | 0.8508 | pathogenic | -0.396 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | N | 0.499748568 | None | None | N |
| S/Q | 0.4778 | ambiguous | 0.4939 | ambiguous | -0.71 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| S/R | 0.5541 | ambiguous | 0.5937 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| S/T | 0.0823 | likely_benign | 0.0782 | benign | -0.629 | Destabilizing | 0.989 | D | 0.497 | neutral | N | 0.501696487 | None | None | N |
| S/V | 0.1549 | likely_benign | 0.1376 | benign | -0.396 | Destabilizing | 0.611 | D | 0.496 | neutral | None | None | None | None | N |
| S/W | 0.3499 | ambiguous | 0.3364 | benign | -0.938 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| S/Y | 0.1785 | likely_benign | 0.1774 | benign | -0.654 | Destabilizing | 0.999 | D | 0.75 | deleterious | N | 0.490278367 | 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.