Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27412 | 82459;82460;82461 | chr2:178563898;178563897;178563896 | chr2:179428625;179428624;179428623 |
| N2AB | 25771 | 77536;77537;77538 | chr2:178563898;178563897;178563896 | chr2:179428625;179428624;179428623 |
| N2A | 24844 | 74755;74756;74757 | chr2:178563898;178563897;178563896 | chr2:179428625;179428624;179428623 |
| N2B | 18347 | 55264;55265;55266 | chr2:178563898;178563897;178563896 | chr2:179428625;179428624;179428623 |
| Novex-1 | 18472 | 55639;55640;55641 | chr2:178563898;178563897;178563896 | chr2:179428625;179428624;179428623 |
| Novex-2 | 18539 | 55840;55841;55842 | chr2:178563898;178563897;178563896 | chr2:179428625;179428624;179428623 |
| 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/K | rs201489661  |
-0.75 | 0.142 | N | 0.324 | 0.355 | None | gnomAD-2.1.1 | 3.94239E-04 | None | None | None | None | N | None | 0 | 0 | None | 6.47024E-03 | 0 | None | 7.84314E-04 | None | 0 | 5.34E-05 | 4.97347E-04 |
| T/K | rs201489661 |
-0.75 | 0.142 | N | 0.324 | 0.355 | None | gnomAD-3.1.2 | 1.90652E-04 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 5.4755E-03 | 0 | None | 0 | 0 | 4.41E-05 | 1.03691E-03 | 4.77555E-04 |
| T/K | rs201489661 |
-0.75 | 0.142 | N | 0.324 | 0.355 | None | gnomAD-4.0.0 | 2.37958E-04 | None | None | None | None | N | None | 1.33301E-05 | 0 | None | 7.26302E-03 | 0 | None | 0 | 0 | 3.22104E-05 | 1.02115E-03 | 5.92152E-04 |
| T/R | rs201489661 |
-0.506 | 0.976 | D | 0.583 | 0.4 | 0.49590494691 | gnomAD-2.1.1 | 4.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.26797E-04 | None | 0 | 0 | 0 |
| T/R | rs201489661 |
-0.506 | 0.976 | D | 0.583 | 0.4 | 0.49590494691 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.03691E-03 | 0 |
| T/R | rs201489661 |
-0.506 | 0.976 | D | 0.583 | 0.4 | 0.49590494691 | gnomAD-4.0.0 | 1.61117E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.85482E-04 | 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 | 0.3138 | likely_benign | 0.301 | benign | -0.835 | Destabilizing | 0.919 | D | 0.505 | neutral | N | 0.457027698 | None | None | N |
| T/C | 0.8978 | likely_pathogenic | 0.8898 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| T/D | 0.9206 | likely_pathogenic | 0.9165 | pathogenic | -0.189 | Destabilizing | 0.991 | D | 0.583 | neutral | None | None | None | None | N |
| T/E | 0.8877 | likely_pathogenic | 0.888 | pathogenic | -0.189 | Destabilizing | 0.938 | D | 0.552 | neutral | None | None | None | None | N |
| T/F | 0.9086 | likely_pathogenic | 0.907 | pathogenic | -0.853 | Destabilizing | 0.998 | D | 0.718 | prob.delet. | None | None | None | None | N |
| T/G | 0.7088 | likely_pathogenic | 0.6857 | pathogenic | -1.095 | Destabilizing | 0.991 | D | 0.623 | neutral | None | None | None | None | N |
| T/H | 0.8808 | likely_pathogenic | 0.8801 | pathogenic | -1.29 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/I | 0.7578 | likely_pathogenic | 0.7742 | pathogenic | -0.232 | Destabilizing | 0.994 | D | 0.647 | neutral | N | 0.505744365 | None | None | N |
| T/K | 0.7272 | likely_pathogenic | 0.7359 | pathogenic | -0.79 | Destabilizing | 0.142 | N | 0.324 | neutral | N | 0.480037844 | None | None | N |
| T/L | 0.4704 | ambiguous | 0.4902 | ambiguous | -0.232 | Destabilizing | 0.968 | D | 0.541 | neutral | None | None | None | None | N |
| T/M | 0.2685 | likely_benign | 0.2873 | benign | 0.024 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| T/N | 0.5669 | likely_pathogenic | 0.5582 | ambiguous | -0.721 | Destabilizing | 0.991 | D | 0.621 | neutral | None | None | None | None | N |
| T/P | 0.6978 | likely_pathogenic | 0.7285 | pathogenic | -0.401 | Destabilizing | 0.994 | D | 0.648 | neutral | N | 0.494604651 | None | None | N |
| T/Q | 0.7957 | likely_pathogenic | 0.7961 | pathogenic | -0.887 | Destabilizing | 0.991 | D | 0.642 | neutral | None | None | None | None | N |
| T/R | 0.7121 | likely_pathogenic | 0.7291 | pathogenic | -0.514 | Destabilizing | 0.976 | D | 0.583 | neutral | D | 0.523522049 | None | None | N |
| T/S | 0.3706 | ambiguous | 0.3262 | benign | -1.026 | Destabilizing | 0.958 | D | 0.502 | neutral | N | 0.472285152 | None | None | N |
| T/V | 0.5547 | ambiguous | 0.5693 | pathogenic | -0.401 | Destabilizing | 0.968 | D | 0.539 | neutral | None | None | None | None | N |
| T/W | 0.9789 | likely_pathogenic | 0.9766 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/Y | 0.9132 | likely_pathogenic | 0.8987 | pathogenic | -0.552 | Destabilizing | 0.998 | D | 0.715 | 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.