Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32756 | 98491;98492;98493 | chr2:178539799;178539798;178539797 | chr2:179404526;179404525;179404524 |
| N2AB | 31115 | 93568;93569;93570 | chr2:178539799;178539798;178539797 | chr2:179404526;179404525;179404524 |
| N2A | 30188 | 90787;90788;90789 | chr2:178539799;178539798;178539797 | chr2:179404526;179404525;179404524 |
| N2B | 23691 | 71296;71297;71298 | chr2:178539799;178539798;178539797 | chr2:179404526;179404525;179404524 |
| Novex-1 | 23816 | 71671;71672;71673 | chr2:178539799;178539798;178539797 | chr2:179404526;179404525;179404524 |
| Novex-2 | 23883 | 71872;71873;71874 | chr2:178539799;178539798;178539797 | chr2:179404526;179404525;179404524 |
| 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/I | rs199805060  |
0.077 | 0.966 | N | 0.404 | 0.272 | None | gnomAD-2.1.1 | 4.53225E-04 | None | None | None | None | N | None | 4.79497E-03 | 1.98098E-04 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 7.81E-06 | 0 |
| T/I | rs199805060 |
0.077 | 0.966 | N | 0.404 | 0.272 | None | gnomAD-3.1.2 | 1.34741E-03 | None | None | None | None | N | None | 4.7295E-03 | 4.58655E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/I | rs199805060 |
0.077 | 0.966 | N | 0.404 | 0.272 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 3.8E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/I | rs199805060 |
0.077 | 0.966 | N | 0.404 | 0.272 | None | gnomAD-4.0.0 | 2.44759E-04 | None | None | None | None | N | None | 4.59779E-03 | 2.66676E-04 | None | 0 | 0 | None | 0 | 0 | 3.39048E-06 | 5.48908E-05 | 4.00115E-04 |
| T/P | None | None | 0.891 | N | 0.413 | 0.263 | 0.38225645794 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 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 | 0.1 | likely_benign | 0.1084 | benign | -0.418 | Destabilizing | 0.454 | N | 0.339 | neutral | N | 0.469698712 | None | None | N |
| T/C | 0.3891 | ambiguous | 0.4205 | ambiguous | -0.239 | Destabilizing | 0.998 | D | 0.413 | neutral | None | None | None | None | N |
| T/D | 0.2631 | likely_benign | 0.2949 | benign | 0.129 | Stabilizing | 0.007 | N | 0.238 | neutral | None | None | None | None | N |
| T/E | 0.2341 | likely_benign | 0.2675 | benign | 0.085 | Stabilizing | 0.067 | N | 0.265 | neutral | None | None | None | None | N |
| T/F | 0.189 | likely_benign | 0.2165 | benign | -0.688 | Destabilizing | 0.991 | D | 0.477 | neutral | None | None | None | None | N |
| T/G | 0.2033 | likely_benign | 0.2264 | benign | -0.61 | Destabilizing | 0.525 | D | 0.466 | neutral | None | None | None | None | N |
| T/H | 0.2087 | likely_benign | 0.2315 | benign | -0.884 | Destabilizing | 0.974 | D | 0.474 | neutral | None | None | None | None | N |
| T/I | 0.18 | likely_benign | 0.191 | benign | -0.02 | Destabilizing | 0.966 | D | 0.404 | neutral | N | 0.472125729 | None | None | N |
| T/K | 0.2016 | likely_benign | 0.2205 | benign | -0.532 | Destabilizing | 0.801 | D | 0.384 | neutral | N | 0.434759419 | None | None | N |
| T/L | 0.1031 | likely_benign | 0.1106 | benign | -0.02 | Destabilizing | 0.842 | D | 0.394 | neutral | None | None | None | None | N |
| T/M | 0.0859 | likely_benign | 0.0876 | benign | 0.091 | Stabilizing | 0.998 | D | 0.391 | neutral | None | None | None | None | N |
| T/N | 0.0908 | likely_benign | 0.0966 | benign | -0.311 | Destabilizing | 0.067 | N | 0.217 | neutral | None | None | None | None | N |
| T/P | 0.3827 | ambiguous | 0.4823 | ambiguous | -0.121 | Destabilizing | 0.891 | D | 0.413 | neutral | N | 0.505795585 | None | None | N |
| T/Q | 0.1984 | likely_benign | 0.2206 | benign | -0.476 | Destabilizing | 0.842 | D | 0.402 | neutral | None | None | None | None | N |
| T/R | 0.1831 | likely_benign | 0.2054 | benign | -0.282 | Destabilizing | 0.801 | D | 0.415 | neutral | N | 0.414693578 | None | None | N |
| T/S | 0.095 | likely_benign | 0.1021 | benign | -0.532 | Destabilizing | 0.051 | N | 0.219 | neutral | N | 0.425409217 | None | None | N |
| T/V | 0.149 | likely_benign | 0.153 | benign | -0.121 | Destabilizing | 0.842 | D | 0.288 | neutral | None | None | None | None | N |
| T/W | 0.4805 | ambiguous | 0.5454 | ambiguous | -0.703 | Destabilizing | 0.998 | D | 0.52 | neutral | None | None | None | None | N |
| T/Y | 0.1873 | likely_benign | 0.2211 | benign | -0.448 | Destabilizing | 0.991 | D | 0.479 | neutral | 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.