Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30955 | 93088;93089;93090 | chr2:178548763;178548762;178548761 | chr2:179413490;179413489;179413488 |
| N2AB | 29314 | 88165;88166;88167 | chr2:178548763;178548762;178548761 | chr2:179413490;179413489;179413488 |
| N2A | 28387 | 85384;85385;85386 | chr2:178548763;178548762;178548761 | chr2:179413490;179413489;179413488 |
| N2B | 21890 | 65893;65894;65895 | chr2:178548763;178548762;178548761 | chr2:179413490;179413489;179413488 |
| Novex-1 | 22015 | 66268;66269;66270 | chr2:178548763;178548762;178548761 | chr2:179413490;179413489;179413488 |
| Novex-2 | 22082 | 66469;66470;66471 | chr2:178548763;178548762;178548761 | chr2:179413490;179413489;179413488 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1371353912  |
-0.622 | 1.0 | D | 0.779 | 0.723 | 0.867300734482 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1371353912 |
-0.622 | 1.0 | D | 0.779 | 0.723 | 0.867300734482 | gnomAD-4.0.0 | 1.59213E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77346E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1323009434 |
None | 1.0 | D | 0.794 | 0.771 | 0.752604504585 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs1323009434 |
None | 1.0 | D | 0.794 | 0.771 | 0.752604504585 | gnomAD-4.0.0 | 3.84489E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17872E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6785 | likely_pathogenic | 0.671 | pathogenic | -1.616 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.540487572 | None | None | N |
| P/C | 0.9794 | likely_pathogenic | 0.9804 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/E | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/F | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/G | 0.981 | likely_pathogenic | 0.98 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/H | 0.9963 | likely_pathogenic | 0.9958 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.564885704 | None | None | N |
| P/I | 0.9716 | likely_pathogenic | 0.9759 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| P/K | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/L | 0.9179 | likely_pathogenic | 0.9319 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.541711658 | None | None | N |
| P/M | 0.9877 | likely_pathogenic | 0.9894 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/Q | 0.9916 | likely_pathogenic | 0.9912 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/R | 0.9926 | likely_pathogenic | 0.9919 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.564378725 | None | None | N |
| P/S | 0.9688 | likely_pathogenic | 0.9638 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.563871746 | None | None | N |
| P/T | 0.9561 | likely_pathogenic | 0.9547 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.563871746 | None | None | N |
| P/V | 0.9222 | likely_pathogenic | 0.9283 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.253 | Destabilizing | 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.