Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2195 | 6808;6809;6810 | chr2:178775128;178775127;178775126 | chr2:179639855;179639854;179639853 |
| N2AB | 2195 | 6808;6809;6810 | chr2:178775128;178775127;178775126 | chr2:179639855;179639854;179639853 |
| N2A | 2195 | 6808;6809;6810 | chr2:178775128;178775127;178775126 | chr2:179639855;179639854;179639853 |
| N2B | 2149 | 6670;6671;6672 | chr2:178775128;178775127;178775126 | chr2:179639855;179639854;179639853 |
| Novex-1 | 2149 | 6670;6671;6672 | chr2:178775128;178775127;178775126 | chr2:179639855;179639854;179639853 |
| Novex-2 | 2149 | 6670;6671;6672 | chr2:178775128;178775127;178775126 | chr2:179639855;179639854;179639853 |
| Novex-3 | 2195 | 6808;6809;6810 | chr2:178775128;178775127;178775126 | chr2:179639855;179639854;179639853 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs202032875  |
-0.699 | 0.999 | D | 0.741 | 0.678 | None | gnomAD-2.1.1 | 1.94897E-04 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 2.78796E-04 | 3.65344E-04 | 0 |
| E/G | rs202032875 |
-0.699 | 0.999 | D | 0.741 | 0.678 | None | gnomAD-3.1.2 | 2.10286E-04 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 3.76435E-04 | 0 | 3.67496E-04 | 0 | 4.77555E-04 |
| E/G | rs202032875 |
-0.699 | 0.999 | D | 0.741 | 0.678 | None | gnomAD-4.0.0 | 2.67052E-04 | None | None | None | None | N | None | 2.67001E-05 | 0 | None | 0 | 0 | None | 3.43632E-04 | 0 | 3.40683E-04 | 0 | 8.00179E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.523 | ambiguous | 0.5581 | ambiguous | -0.648 | Destabilizing | 0.997 | D | 0.681 | prob.neutral | D | 0.636996843 | None | None | N |
| E/C | 0.979 | likely_pathogenic | 0.9816 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/D | 0.782 | likely_pathogenic | 0.7957 | pathogenic | -1.074 | Destabilizing | 0.997 | D | 0.529 | neutral | D | 0.567317211 | None | None | N |
| E/F | 0.9724 | likely_pathogenic | 0.9753 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| E/G | 0.7508 | likely_pathogenic | 0.7712 | pathogenic | -1.061 | Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.679247636 | None | None | N |
| E/H | 0.9167 | likely_pathogenic | 0.9293 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| E/I | 0.8226 | likely_pathogenic | 0.8429 | pathogenic | 0.494 | Stabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| E/K | 0.7405 | likely_pathogenic | 0.7683 | pathogenic | -0.524 | Destabilizing | 0.997 | D | 0.605 | neutral | D | 0.549810519 | None | None | N |
| E/L | 0.8892 | likely_pathogenic | 0.9056 | pathogenic | 0.494 | Stabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| E/M | 0.8665 | likely_pathogenic | 0.884 | pathogenic | 0.862 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| E/N | 0.886 | likely_pathogenic | 0.8987 | pathogenic | -1.161 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| E/P | 0.9933 | likely_pathogenic | 0.9944 | pathogenic | 0.135 | Stabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| E/Q | 0.3781 | ambiguous | 0.4077 | ambiguous | -0.962 | Destabilizing | 0.999 | D | 0.668 | neutral | D | 0.576008699 | None | None | N |
| E/R | 0.8057 | likely_pathogenic | 0.8251 | pathogenic | -0.164 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| E/S | 0.6226 | likely_pathogenic | 0.6546 | pathogenic | -1.497 | Destabilizing | 0.998 | D | 0.658 | neutral | None | None | None | None | N |
| E/T | 0.6929 | likely_pathogenic | 0.7252 | pathogenic | -1.142 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| E/V | 0.654 | likely_pathogenic | 0.6881 | pathogenic | 0.135 | Stabilizing | 0.999 | D | 0.755 | deleterious | D | 0.576312288 | None | None | N |
| E/W | 0.9941 | likely_pathogenic | 0.995 | pathogenic | 0.475 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/Y | 0.9635 | likely_pathogenic | 0.9678 | pathogenic | 0.472 | Stabilizing | 1.0 | D | 0.775 | deleterious | 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.