Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22103 | 66532;66533;66534 | chr2:178582062;178582061;178582060 | chr2:179446789;179446788;179446787 |
| N2AB | 20462 | 61609;61610;61611 | chr2:178582062;178582061;178582060 | chr2:179446789;179446788;179446787 |
| N2A | 19535 | 58828;58829;58830 | chr2:178582062;178582061;178582060 | chr2:179446789;179446788;179446787 |
| N2B | 13038 | 39337;39338;39339 | chr2:178582062;178582061;178582060 | chr2:179446789;179446788;179446787 |
| Novex-1 | 13163 | 39712;39713;39714 | chr2:178582062;178582061;178582060 | chr2:179446789;179446788;179446787 |
| Novex-2 | 13230 | 39913;39914;39915 | chr2:178582062;178582061;178582060 | chr2:179446789;179446788;179446787 |
| 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/A | rs1351683543  |
-0.619 | 0.003 | N | 0.103 | 0.078 | 0.110078149338 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs1351683543 |
-0.619 | 0.003 | N | 0.103 | 0.078 | 0.110078149338 | gnomAD-4.0.0 | 1.36876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.319E-05 | 0 |
| T/I | rs1283761812 |
0.141 | 0.213 | N | 0.289 | 0.168 | 0.254761474806 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/I | rs1283761812 |
0.141 | 0.213 | N | 0.289 | 0.168 | 0.254761474806 | gnomAD-4.0.0 | 6.36896E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.1441E-05 | 0 | 0 |
| T/N | None | None | 0.002 | N | 0.186 | 0.119 | 0.215869574891 | gnomAD-4.0.0 | 1.59224E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86025E-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 | 0.0797 | likely_benign | 0.0929 | benign | -0.747 | Destabilizing | 0.003 | N | 0.103 | neutral | N | 0.435670991 | None | None | N |
| T/C | 0.3501 | ambiguous | 0.3997 | ambiguous | -0.419 | Destabilizing | 0.94 | D | 0.341 | neutral | None | None | None | None | N |
| T/D | 0.6517 | likely_pathogenic | 0.6844 | pathogenic | 0.088 | Stabilizing | 0.264 | N | 0.289 | neutral | None | None | None | None | N |
| T/E | 0.4809 | ambiguous | 0.5472 | ambiguous | 0.085 | Stabilizing | 0.418 | N | 0.295 | neutral | None | None | None | None | N |
| T/F | 0.2809 | likely_benign | 0.3285 | benign | -0.828 | Destabilizing | 0.716 | D | 0.365 | neutral | None | None | None | None | N |
| T/G | 0.208 | likely_benign | 0.2247 | benign | -0.993 | Destabilizing | 0.129 | N | 0.302 | neutral | None | None | None | None | N |
| T/H | 0.3165 | likely_benign | 0.3556 | ambiguous | -1.163 | Destabilizing | 0.716 | D | 0.334 | neutral | None | None | None | None | N |
| T/I | 0.1331 | likely_benign | 0.1645 | benign | -0.186 | Destabilizing | 0.213 | N | 0.289 | neutral | N | 0.448850932 | None | None | N |
| T/K | 0.3842 | ambiguous | 0.442 | ambiguous | -0.643 | Destabilizing | 0.264 | N | 0.294 | neutral | None | None | None | None | N |
| T/L | 0.0998 | likely_benign | 0.1161 | benign | -0.186 | Destabilizing | 0.129 | N | 0.341 | neutral | None | None | None | None | N |
| T/M | 0.0891 | likely_benign | 0.1043 | benign | -0.044 | Destabilizing | 0.836 | D | 0.342 | neutral | None | None | None | None | N |
| T/N | 0.1256 | likely_benign | 0.1406 | benign | -0.537 | Destabilizing | 0.002 | N | 0.186 | neutral | N | 0.48373151 | None | None | N |
| T/P | 0.5712 | likely_pathogenic | 0.575 | pathogenic | -0.34 | Destabilizing | 0.794 | D | 0.377 | neutral | N | 0.52119382 | None | None | N |
| T/Q | 0.2459 | likely_benign | 0.2782 | benign | -0.658 | Destabilizing | 0.716 | D | 0.381 | neutral | None | None | None | None | N |
| T/R | 0.3555 | ambiguous | 0.407 | ambiguous | -0.402 | Destabilizing | 0.716 | D | 0.378 | neutral | None | None | None | None | N |
| T/S | 0.111 | likely_benign | 0.119 | benign | -0.836 | Destabilizing | 0.003 | N | 0.126 | neutral | N | 0.412487487 | None | None | N |
| T/V | 0.1017 | likely_benign | 0.1233 | benign | -0.34 | Destabilizing | 0.001 | N | 0.129 | neutral | None | None | None | None | N |
| T/W | 0.6797 | likely_pathogenic | 0.7063 | pathogenic | -0.785 | Destabilizing | 0.983 | D | 0.395 | neutral | None | None | None | None | N |
| T/Y | 0.3247 | likely_benign | 0.354 | ambiguous | -0.553 | Destabilizing | 0.836 | D | 0.366 | 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.