Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22960 | 69103;69104;69105 | chr2:178577457;178577456;178577455 | chr2:179442184;179442183;179442182 |
| N2AB | 21319 | 64180;64181;64182 | chr2:178577457;178577456;178577455 | chr2:179442184;179442183;179442182 |
| N2A | 20392 | 61399;61400;61401 | chr2:178577457;178577456;178577455 | chr2:179442184;179442183;179442182 |
| N2B | 13895 | 41908;41909;41910 | chr2:178577457;178577456;178577455 | chr2:179442184;179442183;179442182 |
| Novex-1 | 14020 | 42283;42284;42285 | chr2:178577457;178577456;178577455 | chr2:179442184;179442183;179442182 |
| Novex-2 | 14087 | 42484;42485;42486 | chr2:178577457;178577456;178577455 | chr2:179442184;179442183;179442182 |
| 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/G | None | None | 1.0 | N | 0.539 | 0.404 | 0.24896430686 | gnomAD-4.0.0 | 1.37942E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.05686E-07 | 0 | 1.67012E-05 |
| A/T | None | None | 1.0 | N | 0.723 | 0.318 | 0.18274738541 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.813 | likely_pathogenic | 0.7376 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/D | 0.9119 | likely_pathogenic | 0.8715 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/E | 0.7968 | likely_pathogenic | 0.7206 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.465382531 | None | None | N |
| A/F | 0.8861 | likely_pathogenic | 0.8436 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/G | 0.3729 | ambiguous | 0.3295 | benign | -0.617 | Destabilizing | 1.0 | D | 0.539 | neutral | N | 0.488661848 | None | None | N |
| A/H | 0.9081 | likely_pathogenic | 0.8633 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/I | 0.7391 | likely_pathogenic | 0.6282 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/K | 0.8984 | likely_pathogenic | 0.8019 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/L | 0.7003 | likely_pathogenic | 0.6274 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| A/M | 0.6585 | likely_pathogenic | 0.5707 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/N | 0.7746 | likely_pathogenic | 0.6815 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/P | 0.9506 | likely_pathogenic | 0.8926 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.514083342 | None | None | N |
| A/Q | 0.7643 | likely_pathogenic | 0.6861 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/R | 0.8307 | likely_pathogenic | 0.7388 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/S | 0.1712 | likely_benign | 0.1487 | benign | -0.685 | Destabilizing | 1.0 | D | 0.544 | neutral | N | 0.508061446 | None | None | N |
| A/T | 0.3542 | ambiguous | 0.2496 | benign | -0.759 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.507888088 | None | None | N |
| A/V | 0.3845 | ambiguous | 0.2861 | benign | -0.436 | Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.484528439 | None | None | N |
| A/W | 0.9832 | likely_pathogenic | 0.9774 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| A/Y | 0.9119 | likely_pathogenic | 0.8824 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.784 | 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.