Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33085 | 99478;99479;99480 | chr2:178538576;178538575;178538574 | chr2:179403303;179403302;179403301 |
| N2AB | 31444 | 94555;94556;94557 | chr2:178538576;178538575;178538574 | chr2:179403303;179403302;179403301 |
| N2A | 30517 | 91774;91775;91776 | chr2:178538576;178538575;178538574 | chr2:179403303;179403302;179403301 |
| N2B | 24020 | 72283;72284;72285 | chr2:178538576;178538575;178538574 | chr2:179403303;179403302;179403301 |
| Novex-1 | 24145 | 72658;72659;72660 | chr2:178538576;178538575;178538574 | chr2:179403303;179403302;179403301 |
| Novex-2 | 24212 | 72859;72860;72861 | chr2:178538576;178538575;178538574 | chr2:179403303;179403302;179403301 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs748626206  |
-1.217 | 1.0 | N | 0.765 | 0.308 | 0.548188646194 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.55E-05 | None | 0 | 8.92E-06 | 0 |
| R/C | rs748626206 |
-1.217 | 1.0 | N | 0.765 | 0.308 | 0.548188646194 | gnomAD-4.0.0 | 1.16347E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51965E-05 | None | 0 | 0 | 4.49813E-06 | 8.12103E-05 | 6.62822E-05 |
| R/H | rs777035261 |
-1.83 | 1.0 | N | 0.763 | 0.382 | None | gnomAD-2.1.1 | 4.3E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 5.13E-05 | None | 6.56E-05 | None | 0 | 6.28E-05 | 0 |
| R/H | rs777035261 |
-1.83 | 1.0 | N | 0.763 | 0.382 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 2.07297E-04 | 0 |
| R/H | rs777035261 |
-1.83 | 1.0 | N | 0.763 | 0.382 | None | gnomAD-4.0.0 | 7.50092E-05 | None | None | None | None | N | None | 0 | 1.66761E-05 | None | 0 | 0 | None | 0 | 0 | 8.81719E-05 | 8.79121E-05 | 1.28119E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.6818 | likely_pathogenic | 0.7149 | pathogenic | -0.771 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | N |
| R/C | 0.2663 | likely_benign | 0.2735 | benign | -0.751 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.496100587 | None | None | N |
| R/D | 0.9436 | likely_pathogenic | 0.9549 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| R/E | 0.7342 | likely_pathogenic | 0.7772 | pathogenic | 0.114 | Stabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| R/F | 0.8309 | likely_pathogenic | 0.8658 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| R/G | 0.5112 | ambiguous | 0.5584 | ambiguous | -1.134 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.476821393 | None | None | N |
| R/H | 0.2296 | likely_benign | 0.256 | benign | -1.395 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.514686348 | None | None | N |
| R/I | 0.6239 | likely_pathogenic | 0.6385 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| R/K | 0.1748 | likely_benign | 0.1945 | benign | -0.79 | Destabilizing | 0.998 | D | 0.525 | neutral | None | None | None | None | N |
| R/L | 0.5102 | ambiguous | 0.5726 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.513992915 | None | None | N |
| R/M | 0.6396 | likely_pathogenic | 0.6864 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/N | 0.8705 | likely_pathogenic | 0.8912 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| R/P | 0.891 | likely_pathogenic | 0.931 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.51451299 | None | None | N |
| R/Q | 0.1726 | likely_benign | 0.1909 | benign | -0.416 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/S | 0.7423 | likely_pathogenic | 0.7698 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.341666673 | None | None | N |
| R/T | 0.6357 | likely_pathogenic | 0.6486 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| R/V | 0.6472 | likely_pathogenic | 0.6769 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/W | 0.4613 | ambiguous | 0.5312 | ambiguous | 0.083 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| R/Y | 0.7045 | likely_pathogenic | 0.7486 | pathogenic | 0.33 | Stabilizing | 1.0 | D | 0.787 | 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.