Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18418 | 55477;55478;55479 | chr2:178602019;178602018;178602017 | chr2:179466746;179466745;179466744 |
| N2AB | 16777 | 50554;50555;50556 | chr2:178602019;178602018;178602017 | chr2:179466746;179466745;179466744 |
| N2A | 15850 | 47773;47774;47775 | chr2:178602019;178602018;178602017 | chr2:179466746;179466745;179466744 |
| N2B | 9353 | 28282;28283;28284 | chr2:178602019;178602018;178602017 | chr2:179466746;179466745;179466744 |
| Novex-1 | 9478 | 28657;28658;28659 | chr2:178602019;178602018;178602017 | chr2:179466746;179466745;179466744 |
| Novex-2 | 9545 | 28858;28859;28860 | chr2:178602019;178602018;178602017 | chr2:179466746;179466745;179466744 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs536719544  |
-0.841 | 1.0 | N | 0.659 | 0.308 | 0.3691244813 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23864E-04 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs536719544 |
-0.841 | 1.0 | N | 0.659 | 0.308 | 0.3691244813 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs536719544 |
-0.841 | 1.0 | N | 0.659 | 0.308 | 0.3691244813 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| A/T | rs536719544 |
-0.841 | 1.0 | N | 0.659 | 0.308 | 0.3691244813 | gnomAD-4.0.0 | 3.84818E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.29963E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.456 | ambiguous | 0.456 | ambiguous | -0.661 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| A/D | 0.4467 | ambiguous | 0.4753 | ambiguous | -0.968 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/E | 0.3691 | ambiguous | 0.4085 | ambiguous | -0.988 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.457654921 | None | None | N |
| A/F | 0.4788 | ambiguous | 0.513 | ambiguous | -0.936 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/G | 0.1404 | likely_benign | 0.1452 | benign | -1.128 | Destabilizing | 1.0 | D | 0.571 | neutral | N | 0.513414991 | None | None | N |
| A/H | 0.617 | likely_pathogenic | 0.653 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/I | 0.324 | likely_benign | 0.3845 | ambiguous | -0.27 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/K | 0.6284 | likely_pathogenic | 0.7041 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/L | 0.2588 | likely_benign | 0.295 | benign | -0.27 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/M | 0.3197 | likely_benign | 0.3709 | ambiguous | -0.163 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| A/N | 0.3549 | ambiguous | 0.4177 | ambiguous | -0.747 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| A/P | 0.3248 | likely_benign | 0.4259 | ambiguous | -0.424 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.465717044 | None | None | N |
| A/Q | 0.4549 | ambiguous | 0.5002 | ambiguous | -0.877 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/R | 0.6032 | likely_pathogenic | 0.6544 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/S | 0.1148 | likely_benign | 0.119 | benign | -1.114 | Destabilizing | 1.0 | D | 0.567 | neutral | N | 0.512028124 | None | None | N |
| A/T | 0.1298 | likely_benign | 0.1522 | benign | -1.038 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.494135797 | None | None | N |
| A/V | 0.1607 | likely_benign | 0.19 | benign | -0.424 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.48838326 | None | None | N |
| A/W | 0.8125 | likely_pathogenic | 0.8421 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/Y | 0.5734 | likely_pathogenic | 0.6124 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.79 | 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.