Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15376 | 46351;46352;46353 | chr2:178620395;178620394;178620393 | chr2:179485122;179485121;179485120 |
| N2AB | 13735 | 41428;41429;41430 | chr2:178620395;178620394;178620393 | chr2:179485122;179485121;179485120 |
| N2A | 12808 | 38647;38648;38649 | chr2:178620395;178620394;178620393 | chr2:179485122;179485121;179485120 |
| N2B | 6311 | 19156;19157;19158 | chr2:178620395;178620394;178620393 | chr2:179485122;179485121;179485120 |
| Novex-1 | 6436 | 19531;19532;19533 | chr2:178620395;178620394;178620393 | chr2:179485122;179485121;179485120 |
| Novex-2 | 6503 | 19732;19733;19734 | chr2:178620395;178620394;178620393 | chr2:179485122;179485121;179485120 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 0.991 | N | 0.827 | 0.43 | 0.397391247328 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1370978801  |
-0.543 | 0.998 | N | 0.84 | 0.426 | 0.588350616613 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/R | rs1370978801 |
-0.543 | 0.998 | N | 0.84 | 0.426 | 0.588350616613 | gnomAD-4.0.0 | 1.36974E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00108E-07 | 1.16112E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4799 | ambiguous | 0.3628 | ambiguous | -0.252 | Destabilizing | 0.984 | D | 0.673 | neutral | N | 0.500841812 | None | None | I |
| G/C | 0.6833 | likely_pathogenic | 0.566 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/D | 0.6248 | likely_pathogenic | 0.4816 | ambiguous | -0.603 | Destabilizing | 0.379 | N | 0.566 | neutral | None | None | None | None | I |
| G/E | 0.6905 | likely_pathogenic | 0.5185 | ambiguous | -0.769 | Destabilizing | 0.991 | D | 0.827 | deleterious | N | 0.481128151 | None | None | I |
| G/F | 0.8995 | likely_pathogenic | 0.8376 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/H | 0.82 | likely_pathogenic | 0.7272 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/I | 0.8859 | likely_pathogenic | 0.7714 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/K | 0.7778 | likely_pathogenic | 0.6565 | pathogenic | -0.828 | Destabilizing | 0.997 | D | 0.831 | deleterious | None | None | None | None | I |
| G/L | 0.845 | likely_pathogenic | 0.7483 | pathogenic | -0.399 | Destabilizing | 0.998 | D | 0.824 | deleterious | None | None | None | None | I |
| G/M | 0.9105 | likely_pathogenic | 0.8468 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.6845 | likely_pathogenic | 0.5698 | pathogenic | -0.444 | Destabilizing | 0.993 | D | 0.789 | deleterious | None | None | None | None | I |
| G/P | 0.9701 | likely_pathogenic | 0.9438 | pathogenic | -0.317 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | I |
| G/Q | 0.7171 | likely_pathogenic | 0.5916 | pathogenic | -0.742 | Destabilizing | 0.997 | D | 0.839 | deleterious | None | None | None | None | I |
| G/R | 0.6656 | likely_pathogenic | 0.5133 | ambiguous | -0.356 | Destabilizing | 0.998 | D | 0.84 | deleterious | N | 0.521408522 | None | None | I |
| G/S | 0.3195 | likely_benign | 0.2397 | benign | -0.582 | Destabilizing | 0.993 | D | 0.75 | deleterious | None | None | None | None | I |
| G/T | 0.7558 | likely_pathogenic | 0.6125 | pathogenic | -0.681 | Destabilizing | 0.997 | D | 0.83 | deleterious | None | None | None | None | I |
| G/V | 0.8086 | likely_pathogenic | 0.6599 | pathogenic | -0.317 | Destabilizing | 0.998 | D | 0.827 | deleterious | N | 0.521997856 | None | None | I |
| G/W | 0.8655 | likely_pathogenic | 0.7893 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Y | 0.8554 | likely_pathogenic | 0.7739 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.796 | 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.