Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26118 | 78577;78578;78579 | chr2:178567780;178567779;178567778 | chr2:179432507;179432506;179432505 |
| N2AB | 24477 | 73654;73655;73656 | chr2:178567780;178567779;178567778 | chr2:179432507;179432506;179432505 |
| N2A | 23550 | 70873;70874;70875 | chr2:178567780;178567779;178567778 | chr2:179432507;179432506;179432505 |
| N2B | 17053 | 51382;51383;51384 | chr2:178567780;178567779;178567778 | chr2:179432507;179432506;179432505 |
| Novex-1 | 17178 | 51757;51758;51759 | chr2:178567780;178567779;178567778 | chr2:179432507;179432506;179432505 |
| Novex-2 | 17245 | 51958;51959;51960 | chr2:178567780;178567779;178567778 | chr2:179432507;179432506;179432505 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.999 | N | 0.606 | 0.412 | 0.342631996419 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85954E-06 | 0 | 0 |
| S/I | rs779102037  |
-0.158 | 1.0 | N | 0.829 | 0.546 | 0.632689300127 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 1.15969E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/I | rs779102037 |
-0.158 | 1.0 | N | 0.829 | 0.546 | 0.632689300127 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | rs779102037 |
-0.158 | 1.0 | N | 0.829 | 0.546 | 0.632689300127 | gnomAD-4.0.0 | 8.97125E-06 | None | None | None | None | I | None | 0 | 1.01723E-04 | None | 0 | 0 | None | 0 | 0 | 2.39413E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.151 | likely_benign | 0.1294 | benign | -0.48 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | I |
| S/C | 0.1639 | likely_benign | 0.1321 | benign | -0.227 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.491629541 | None | None | I |
| S/D | 0.9559 | likely_pathogenic | 0.9415 | pathogenic | -0.524 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | I |
| S/E | 0.9604 | likely_pathogenic | 0.9476 | pathogenic | -0.605 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | I |
| S/F | 0.4742 | ambiguous | 0.4105 | ambiguous | -1.035 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| S/G | 0.3224 | likely_benign | 0.2801 | benign | -0.621 | Destabilizing | 0.999 | D | 0.606 | neutral | N | 0.480528909 | None | None | I |
| S/H | 0.7242 | likely_pathogenic | 0.7093 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| S/I | 0.6679 | likely_pathogenic | 0.6162 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.505503834 | None | None | I |
| S/K | 0.9849 | likely_pathogenic | 0.9818 | pathogenic | -0.64 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | I |
| S/L | 0.3144 | likely_benign | 0.2673 | benign | -0.227 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| S/M | 0.4712 | ambiguous | 0.4206 | ambiguous | 0.307 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| S/N | 0.6018 | likely_pathogenic | 0.5932 | pathogenic | -0.444 | Destabilizing | 0.999 | D | 0.762 | deleterious | N | 0.501882983 | None | None | I |
| S/P | 0.9888 | likely_pathogenic | 0.9855 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| S/Q | 0.8839 | likely_pathogenic | 0.8766 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| S/R | 0.9676 | likely_pathogenic | 0.9619 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.499855067 | None | None | I |
| S/T | 0.3734 | ambiguous | 0.3278 | benign | -0.483 | Destabilizing | 0.999 | D | 0.62 | neutral | N | 0.488133594 | None | None | I |
| S/V | 0.5957 | likely_pathogenic | 0.5262 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| S/W | 0.7236 | likely_pathogenic | 0.6635 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| S/Y | 0.4753 | ambiguous | 0.4156 | ambiguous | -0.757 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
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.