Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30485 | 91678;91679;91680 | chr2:178551078;178551077;178551076 | chr2:179415805;179415804;179415803 |
| N2AB | 28844 | 86755;86756;86757 | chr2:178551078;178551077;178551076 | chr2:179415805;179415804;179415803 |
| N2A | 27917 | 83974;83975;83976 | chr2:178551078;178551077;178551076 | chr2:179415805;179415804;179415803 |
| N2B | 21420 | 64483;64484;64485 | chr2:178551078;178551077;178551076 | chr2:179415805;179415804;179415803 |
| Novex-1 | 21545 | 64858;64859;64860 | chr2:178551078;178551077;178551076 | chr2:179415805;179415804;179415803 |
| Novex-2 | 21612 | 65059;65060;65061 | chr2:178551078;178551077;178551076 | chr2:179415805;179415804;179415803 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs748001852  |
-0.101 | 1.0 | N | 0.767 | 0.44 | 0.637519714765 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs748001852 |
-0.101 | 1.0 | N | 0.767 | 0.44 | 0.637519714765 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2152 | likely_benign | 0.2573 | benign | -0.211 | Destabilizing | 0.974 | D | 0.479 | neutral | N | 0.475948504 | None | None | N |
| G/C | 0.4534 | ambiguous | 0.5364 | ambiguous | -0.811 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/D | 0.5437 | ambiguous | 0.6738 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/E | 0.6121 | likely_pathogenic | 0.743 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.481099837 | None | None | N |
| G/F | 0.8539 | likely_pathogenic | 0.9093 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/H | 0.7157 | likely_pathogenic | 0.7977 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/I | 0.7648 | likely_pathogenic | 0.8487 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/K | 0.854 | likely_pathogenic | 0.9159 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/L | 0.7246 | likely_pathogenic | 0.8044 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/M | 0.735 | likely_pathogenic | 0.8103 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/N | 0.391 | ambiguous | 0.4785 | ambiguous | -0.39 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/P | 0.9676 | likely_pathogenic | 0.9825 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/Q | 0.6532 | likely_pathogenic | 0.7432 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/R | 0.7377 | likely_pathogenic | 0.8342 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.477024914 | None | None | N |
| G/S | 0.1456 | likely_benign | 0.1727 | benign | -0.546 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/T | 0.38 | ambiguous | 0.4672 | ambiguous | -0.622 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/V | 0.6044 | likely_pathogenic | 0.7224 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.537440519 | None | None | N |
| G/W | 0.8233 | likely_pathogenic | 0.8923 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/Y | 0.7778 | likely_pathogenic | 0.8538 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.783 | 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.