Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32739 | 98440;98441;98442 | chr2:178539850;178539849;178539848 | chr2:179404577;179404576;179404575 |
| N2AB | 31098 | 93517;93518;93519 | chr2:178539850;178539849;178539848 | chr2:179404577;179404576;179404575 |
| N2A | 30171 | 90736;90737;90738 | chr2:178539850;178539849;178539848 | chr2:179404577;179404576;179404575 |
| N2B | 23674 | 71245;71246;71247 | chr2:178539850;178539849;178539848 | chr2:179404577;179404576;179404575 |
| Novex-1 | 23799 | 71620;71621;71622 | chr2:178539850;178539849;178539848 | chr2:179404577;179404576;179404575 |
| Novex-2 | 23866 | 71821;71822;71823 | chr2:178539850;178539849;178539848 | chr2:179404577;179404576;179404575 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs886042542  |
None | 1.0 | N | 0.79 | 0.373 | 0.378148810121 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs886042542 |
None | 1.0 | N | 0.79 | 0.373 | 0.378148810121 | gnomAD-4.0.0 | 2.56235E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78606E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.169 | likely_benign | 0.1258 | benign | -1.161 | Destabilizing | 0.999 | D | 0.551 | neutral | N | 0.500730042 | None | None | N |
| T/C | 0.5148 | ambiguous | 0.4021 | ambiguous | -0.935 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/D | 0.7185 | likely_pathogenic | 0.6567 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/E | 0.4486 | ambiguous | 0.356 | ambiguous | -1.317 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| T/F | 0.3677 | ambiguous | 0.2813 | benign | -0.963 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/G | 0.3774 | ambiguous | 0.3023 | benign | -1.563 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/H | 0.3689 | ambiguous | 0.2902 | benign | -1.766 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| T/I | 0.3787 | ambiguous | 0.2942 | benign | -0.117 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.487011383 | None | None | N |
| T/K | 0.3049 | likely_benign | 0.2154 | benign | -0.622 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/L | 0.1627 | likely_benign | 0.1183 | benign | -0.117 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/M | 0.1082 | likely_benign | 0.0886 | benign | -0.007 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| T/N | 0.2098 | likely_benign | 0.1633 | benign | -1.299 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.513736625 | None | None | N |
| T/P | 0.8979 | likely_pathogenic | 0.8784 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.477595031 | None | None | N |
| T/Q | 0.2678 | likely_benign | 0.1982 | benign | -1.136 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/R | 0.244 | likely_benign | 0.175 | benign | -0.779 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| T/S | 0.1612 | likely_benign | 0.1294 | benign | -1.517 | Destabilizing | 0.999 | D | 0.542 | neutral | N | 0.429541948 | None | None | N |
| T/V | 0.2756 | likely_benign | 0.2123 | benign | -0.433 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| T/W | 0.7208 | likely_pathogenic | 0.6434 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/Y | 0.4194 | ambiguous | 0.3291 | benign | -0.709 | Destabilizing | 1.0 | D | 0.783 | 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.