Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26933 | 81022;81023;81024 | chr2:178565335;178565334;178565333 | chr2:179430062;179430061;179430060 |
| N2AB | 25292 | 76099;76100;76101 | chr2:178565335;178565334;178565333 | chr2:179430062;179430061;179430060 |
| N2A | 24365 | 73318;73319;73320 | chr2:178565335;178565334;178565333 | chr2:179430062;179430061;179430060 |
| N2B | 17868 | 53827;53828;53829 | chr2:178565335;178565334;178565333 | chr2:179430062;179430061;179430060 |
| Novex-1 | 17993 | 54202;54203;54204 | chr2:178565335;178565334;178565333 | chr2:179430062;179430061;179430060 |
| Novex-2 | 18060 | 54403;54404;54405 | chr2:178565335;178565334;178565333 | chr2:179430062;179430061;179430060 |
| 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 | None | None | 0.984 | N | 0.559 | 0.424 | 0.456462010053 | gnomAD-4.0.0 | 1.59156E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 0 |
| T/N | rs1418023891  |
None | 0.896 | N | 0.526 | 0.253 | 0.322230723748 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs1418023891 |
None | 0.896 | N | 0.526 | 0.253 | 0.322230723748 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 0 | 0 |
| T/P | None | None | 0.984 | N | 0.561 | 0.389 | 0.456830177556 | gnomAD-4.0.0 | 3.18317E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54662E-05 | None | 0 | 0 | 0 | 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 | 0.0692 | likely_benign | 0.0712 | benign | -0.316 | Destabilizing | 0.64 | D | 0.443 | neutral | N | 0.507947669 | None | None | N |
| T/C | 0.3951 | ambiguous | 0.407 | ambiguous | -0.122 | Destabilizing | 0.999 | D | 0.572 | neutral | None | None | None | None | N |
| T/D | 0.2742 | likely_benign | 0.2884 | benign | 0.112 | Stabilizing | 0.919 | D | 0.562 | neutral | None | None | None | None | N |
| T/E | 0.26 | likely_benign | 0.2692 | benign | 0.023 | Stabilizing | 0.919 | D | 0.578 | neutral | None | None | None | None | N |
| T/F | 0.1813 | likely_benign | 0.1932 | benign | -0.879 | Destabilizing | 0.996 | D | 0.65 | neutral | None | None | None | None | N |
| T/G | 0.1665 | likely_benign | 0.1699 | benign | -0.424 | Destabilizing | 0.851 | D | 0.579 | neutral | None | None | None | None | N |
| T/H | 0.2222 | likely_benign | 0.2284 | benign | -0.796 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| T/I | 0.1567 | likely_benign | 0.1599 | benign | -0.152 | Destabilizing | 0.984 | D | 0.559 | neutral | N | 0.505256867 | None | None | N |
| T/K | 0.1829 | likely_benign | 0.1962 | benign | -0.288 | Destabilizing | 0.919 | D | 0.565 | neutral | None | None | None | None | N |
| T/L | 0.0962 | likely_benign | 0.1009 | benign | -0.152 | Destabilizing | 0.919 | D | 0.553 | neutral | None | None | None | None | N |
| T/M | 0.0986 | likely_benign | 0.0977 | benign | 0.123 | Stabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| T/N | 0.0988 | likely_benign | 0.0993 | benign | -0.013 | Destabilizing | 0.896 | D | 0.526 | neutral | N | 0.431431112 | None | None | N |
| T/P | 0.3023 | likely_benign | 0.313 | benign | -0.179 | Destabilizing | 0.984 | D | 0.561 | neutral | N | 0.519263528 | None | None | N |
| T/Q | 0.2103 | likely_benign | 0.2182 | benign | -0.279 | Destabilizing | 0.988 | D | 0.568 | neutral | None | None | None | None | N |
| T/R | 0.1628 | likely_benign | 0.1756 | benign | -0.031 | Destabilizing | 0.976 | D | 0.575 | neutral | None | None | None | None | N |
| T/S | 0.0835 | likely_benign | 0.0839 | benign | -0.205 | Destabilizing | 0.046 | N | 0.245 | neutral | N | 0.437261007 | None | None | N |
| T/V | 0.121 | likely_benign | 0.1221 | benign | -0.179 | Destabilizing | 0.919 | D | 0.507 | neutral | None | None | None | None | N |
| T/W | 0.54 | ambiguous | 0.5679 | pathogenic | -0.895 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2111 | likely_benign | 0.2268 | benign | -0.603 | Destabilizing | 0.996 | D | 0.651 | 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.