Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 162 | 709;710;711 | chr2:178800494;178800493;178800492 | chr2:179665221;179665220;179665219 |
| N2AB | 162 | 709;710;711 | chr2:178800494;178800493;178800492 | chr2:179665221;179665220;179665219 |
| N2A | 162 | 709;710;711 | chr2:178800494;178800493;178800492 | chr2:179665221;179665220;179665219 |
| N2B | 162 | 709;710;711 | chr2:178800494;178800493;178800492 | chr2:179665221;179665220;179665219 |
| Novex-1 | 162 | 709;710;711 | chr2:178800494;178800493;178800492 | chr2:179665221;179665220;179665219 |
| Novex-2 | 162 | 709;710;711 | chr2:178800494;178800493;178800492 | chr2:179665221;179665220;179665219 |
| Novex-3 | 162 | 709;710;711 | chr2:178800494;178800493;178800492 | chr2:179665221;179665220;179665219 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/Q | rs145438758  |
-1.629 | 0.927 | N | 0.713 | 0.56 | None | gnomAD-2.1.1 | 3.54E-05 | None | None | None | -0.484(TCAP) | N | None | 2.80359E-04 | 8.47E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/Q | rs145438758 |
-1.629 | 0.927 | N | 0.713 | 0.56 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | -0.484(TCAP) | N | None | 1.20616E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/Q | rs145438758 |
-1.629 | 0.927 | N | 0.713 | 0.56 | None | 1000 genomes | 1.99681E-04 | None | None | None | -0.484(TCAP) | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| L/Q | rs145438758 |
-1.629 | 0.927 | N | 0.713 | 0.56 | None | gnomAD-4.0.0 | 9.29267E-06 | None | None | None | -0.484(TCAP) | N | None | 1.33234E-04 | 6.66511E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.59995E-05 |
| L/R | rs145438758 |
-0.823 | 0.799 | N | 0.703 | 0.565 | None | gnomAD-2.1.1 | 6.37E-05 | None | None | None | -0.804(TCAP) | N | None | 2.29568E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/R | rs145438758 |
-0.823 | 0.799 | N | 0.703 | 0.565 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | -0.804(TCAP) | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | rs145438758 |
-0.823 | 0.799 | N | 0.703 | 0.565 | None | gnomAD-4.0.0 | 2.62826E-05 | None | None | None | -0.804(TCAP) | N | None | 9.64925E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs762430512 |
-1.479 | None | N | 0.347 | 0.068 | 0.427713192076 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.105(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| L/V | rs762430512 |
-1.479 | None | N | 0.347 | 0.068 | 0.427713192076 | gnomAD-4.0.0 | 1.59044E-06 | None | None | None | -0.105(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.6829 | likely_pathogenic | 0.724 | pathogenic | -2.376 | Highly Destabilizing | 0.483 | N | 0.559 | neutral | None | None | None | 0.093(TCAP) | N |
| L/C | 0.926 | likely_pathogenic | 0.8919 | pathogenic | -1.823 | Destabilizing | 0.98 | D | 0.656 | neutral | None | None | None | -0.839(TCAP) | N |
| L/D | 0.9453 | likely_pathogenic | 0.9627 | pathogenic | -2.358 | Highly Destabilizing | 0.93 | D | 0.744 | deleterious | None | None | None | -0.861(TCAP) | N |
| L/E | 0.7339 | likely_pathogenic | 0.7879 | pathogenic | -2.266 | Highly Destabilizing | 0.907 | D | 0.727 | prob.delet. | None | None | None | -1.025(TCAP) | N |
| L/F | 0.4484 | ambiguous | 0.4831 | ambiguous | -1.531 | Destabilizing | 0.722 | D | 0.575 | neutral | None | None | None | -0.01(TCAP) | N |
| L/G | 0.9387 | likely_pathogenic | 0.9523 | pathogenic | -2.782 | Highly Destabilizing | 0.93 | D | 0.729 | prob.delet. | None | None | None | 0.17(TCAP) | N |
| L/H | 0.6621 | likely_pathogenic | 0.6835 | pathogenic | -1.895 | Destabilizing | 0.984 | D | 0.75 | deleterious | None | None | None | 0.269(TCAP) | N |
| L/I | 0.1609 | likely_benign | 0.1598 | benign | -1.265 | Destabilizing | None | N | 0.279 | neutral | None | None | None | -0.222(TCAP) | N |
| L/K | 0.6882 | likely_pathogenic | 0.7311 | pathogenic | -1.736 | Destabilizing | 0.281 | N | 0.687 | prob.neutral | None | None | None | -0.834(TCAP) | N |
| L/M | 0.2715 | likely_benign | 0.2638 | benign | -1.233 | Destabilizing | 0.371 | N | 0.612 | neutral | N | 0.510426929 | None | -0.509(TCAP) | N |
| L/N | 0.8173 | likely_pathogenic | 0.8595 | pathogenic | -1.77 | Destabilizing | 0.976 | D | 0.753 | deleterious | None | None | None | -0.36(TCAP) | N |
| L/P | 0.9958 | likely_pathogenic | 0.9971 | pathogenic | -1.611 | Destabilizing | 0.909 | D | 0.746 | deleterious | D | 0.600160342 | None | -0.105(TCAP) | N |
| L/Q | 0.419 | ambiguous | 0.4792 | ambiguous | -1.89 | Destabilizing | 0.927 | D | 0.713 | prob.delet. | N | 0.488182826 | None | -0.484(TCAP) | N |
| L/R | 0.5589 | ambiguous | 0.622 | pathogenic | -1.156 | Destabilizing | 0.799 | D | 0.703 | prob.neutral | N | 0.469475624 | None | -0.804(TCAP) | N |
| L/S | 0.7747 | likely_pathogenic | 0.8142 | pathogenic | -2.447 | Highly Destabilizing | 0.867 | D | 0.657 | neutral | None | None | None | -0.063(TCAP) | N |
| L/T | 0.5434 | ambiguous | 0.5889 | pathogenic | -2.237 | Highly Destabilizing | 0.219 | N | 0.586 | neutral | None | None | None | -0.217(TCAP) | N |
| L/V | 0.157 | likely_benign | 0.1618 | benign | -1.611 | Destabilizing | None | N | 0.347 | neutral | N | 0.441035801 | None | -0.105(TCAP) | N |
| L/W | 0.7269 | likely_pathogenic | 0.7475 | pathogenic | -1.664 | Destabilizing | 0.996 | D | 0.694 | prob.neutral | None | None | None | -0.375(TCAP) | N |
| L/Y | 0.7781 | likely_pathogenic | 0.8027 | pathogenic | -1.461 | Destabilizing | 0.382 | N | 0.664 | neutral | None | None | None | -0.011(TCAP) | 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.