Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26175 | 78748;78749;78750 | chr2:178567609;178567608;178567607 | chr2:179432336;179432335;179432334 |
| N2AB | 24534 | 73825;73826;73827 | chr2:178567609;178567608;178567607 | chr2:179432336;179432335;179432334 |
| N2A | 23607 | 71044;71045;71046 | chr2:178567609;178567608;178567607 | chr2:179432336;179432335;179432334 |
| N2B | 17110 | 51553;51554;51555 | chr2:178567609;178567608;178567607 | chr2:179432336;179432335;179432334 |
| Novex-1 | 17235 | 51928;51929;51930 | chr2:178567609;178567608;178567607 | chr2:179432336;179432335;179432334 |
| Novex-2 | 17302 | 52129;52130;52131 | chr2:178567609;178567608;178567607 | chr2:179432336;179432335;179432334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 1.0 | N | 0.805 | 0.515 | 0.428976297845 | gnomAD-4.0.0 | 6.1657E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.83436E-05 | 0 | None | 0 | 0 | 7.20327E-06 | 0 | 0 |
| P/L | rs759843428  |
-0.759 | 1.0 | D | 0.825 | 0.517 | 0.588350616613 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.0016E-04 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs759843428 |
-0.759 | 1.0 | D | 0.825 | 0.517 | 0.588350616613 | gnomAD-4.0.0 | 6.85078E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.83436E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.746 | 0.445 | 0.308278614506 | gnomAD-4.0.0 | 1.59572E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86715E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1802 | likely_benign | 0.157 | benign | -1.525 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.472012397 | None | None | N |
| P/C | 0.8917 | likely_pathogenic | 0.8547 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/D | 0.9714 | likely_pathogenic | 0.9679 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| P/E | 0.9057 | likely_pathogenic | 0.8929 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/F | 0.9126 | likely_pathogenic | 0.8908 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/G | 0.7077 | likely_pathogenic | 0.6439 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/H | 0.8045 | likely_pathogenic | 0.7803 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.511489817 | None | None | N |
| P/I | 0.8677 | likely_pathogenic | 0.8481 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/K | 0.9482 | likely_pathogenic | 0.9335 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/L | 0.6623 | likely_pathogenic | 0.6487 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.524350152 | None | None | N |
| P/M | 0.8598 | likely_pathogenic | 0.8435 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/N | 0.938 | likely_pathogenic | 0.9302 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/Q | 0.7975 | likely_pathogenic | 0.7755 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/R | 0.8971 | likely_pathogenic | 0.8697 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.502993894 | None | None | N |
| P/S | 0.5728 | likely_pathogenic | 0.5356 | ambiguous | -1.426 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.51022237 | None | None | N |
| P/T | 0.6232 | likely_pathogenic | 0.6099 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.537227395 | None | None | N |
| P/V | 0.7423 | likely_pathogenic | 0.7144 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/W | 0.9685 | likely_pathogenic | 0.9569 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/Y | 0.8978 | likely_pathogenic | 0.8755 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.863 | 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.