Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32765 | 98518;98519;98520 | chr2:178539772;178539771;178539770 | chr2:179404499;179404498;179404497 |
| N2AB | 31124 | 93595;93596;93597 | chr2:178539772;178539771;178539770 | chr2:179404499;179404498;179404497 |
| N2A | 30197 | 90814;90815;90816 | chr2:178539772;178539771;178539770 | chr2:179404499;179404498;179404497 |
| N2B | 23700 | 71323;71324;71325 | chr2:178539772;178539771;178539770 | chr2:179404499;179404498;179404497 |
| Novex-1 | 23825 | 71698;71699;71700 | chr2:178539772;178539771;178539770 | chr2:179404499;179404498;179404497 |
| Novex-2 | 23892 | 71899;71900;71901 | chr2:178539772;178539771;178539770 | chr2:179404499;179404498;179404497 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs72648273  |
-1.504 | 1.0 | D | 0.545 | 0.411 | None | gnomAD-2.1.1 | 2.97035E-03 | None | None | None | None | N | None | 2.894E-04 | 1.47125E-03 | None | 5.12473E-03 | 0 | None | 1.07843E-03 | None | 4.79655E-03 | 4.27424E-03 | 2.80505E-03 |
| A/G | rs72648273 |
-1.504 | 1.0 | D | 0.545 | 0.411 | None | gnomAD-3.1.2 | 2.47186E-03 | None | None | None | None | N | None | 4.82835E-04 | 3.01402E-03 | 0 | 2.88184E-03 | 0 | None | 3.95704E-03 | 3.16456E-03 | 3.63171E-03 | 8.27815E-04 | 2.87081E-03 |
| A/G | rs72648273 |
-1.504 | 1.0 | D | 0.545 | 0.411 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 2E-03 | None | None | None | 1E-03 | None |
| A/G | rs72648273 |
-1.504 | 1.0 | D | 0.545 | 0.411 | None | gnomAD-4.0.0 | 2.89938E-03 | None | None | None | None | N | None | 4.93241E-04 | 1.90006E-03 | None | 3.54706E-03 | 2.22896E-05 | None | 4.21809E-03 | 4.28901E-03 | 3.25911E-03 | 1.09786E-03 | 2.89693E-03 |
| A/T | rs971287235 |
None | 1.0 | D | 0.683 | 0.349 | 0.538514308947 | 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 |
| A/T | rs971287235 |
None | 1.0 | D | 0.683 | 0.349 | 0.538514308947 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.654 | likely_pathogenic | 0.6364 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/D | 0.9812 | likely_pathogenic | 0.9777 | pathogenic | -2.923 | Highly Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| A/E | 0.976 | likely_pathogenic | 0.9708 | pathogenic | -2.876 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.527290706 | None | None | N |
| A/F | 0.9817 | likely_pathogenic | 0.9773 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/G | 0.4162 | ambiguous | 0.3886 | ambiguous | -1.411 | Destabilizing | 1.0 | D | 0.545 | neutral | D | 0.529696739 | None | None | N |
| A/H | 0.9905 | likely_pathogenic | 0.988 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/I | 0.7677 | likely_pathogenic | 0.7485 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/K | 0.9938 | likely_pathogenic | 0.9919 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/L | 0.8372 | likely_pathogenic | 0.8132 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| A/M | 0.8422 | likely_pathogenic | 0.804 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/N | 0.9425 | likely_pathogenic | 0.9349 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/P | 0.893 | likely_pathogenic | 0.8993 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.509186451 | None | None | N |
| A/Q | 0.9736 | likely_pathogenic | 0.9673 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/R | 0.985 | likely_pathogenic | 0.9813 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/S | 0.2065 | likely_benign | 0.1887 | benign | -1.86 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.504934367 | None | None | N |
| A/T | 0.2699 | likely_benign | 0.232 | benign | -1.73 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.524328205 | None | None | N |
| A/V | 0.3486 | ambiguous | 0.3269 | benign | -0.639 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.462887383 | None | None | N |
| A/W | 0.9974 | likely_pathogenic | 0.9968 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| A/Y | 0.9911 | likely_pathogenic | 0.9893 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.