Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7757 | 23494;23495;23496 | chr2:178720493;178720492;178720491 | chr2:179585220;179585219;179585218 |
| N2AB | 7440 | 22543;22544;22545 | chr2:178720493;178720492;178720491 | chr2:179585220;179585219;179585218 |
| N2A | 6513 | 19762;19763;19764 | chr2:178720493;178720492;178720491 | chr2:179585220;179585219;179585218 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs767710865  |
-1.003 | None | N | 0.305 | 0.047 | 0.0482279557977 | gnomAD-4.0.0 | 2.73711E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59819E-06 | 0 | 0 |
| T/R | rs2154300676 |
None | 0.927 | N | 0.77 | 0.285 | 0.358540694251 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs2154300676 |
None | 0.927 | N | 0.77 | 0.285 | 0.358540694251 | gnomAD-4.0.0 | 6.56711E-06 | None | None | None | None | N | None | 0 | 6.54279E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs767710865 |
None | 0.002 | N | 0.557 | 0.047 | 0.0482279557977 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85356E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs767710865 |
None | 0.002 | N | 0.557 | 0.047 | 0.0482279557977 | gnomAD-4.0.0 | 1.36331E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.90349E-04 | None | 0 | 0 | 0 | 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 | 0.0745 | likely_benign | 0.07 | benign | -0.907 | Destabilizing | None | N | 0.305 | neutral | N | 0.388636688 | None | None | N |
| T/C | 0.3677 | ambiguous | 0.3975 | ambiguous | -0.934 | Destabilizing | 0.736 | D | 0.754 | deleterious | None | None | None | None | N |
| T/D | 0.8644 | likely_pathogenic | 0.8644 | pathogenic | -1.918 | Destabilizing | 0.042 | N | 0.77 | deleterious | None | None | None | None | N |
| T/E | 0.8546 | likely_pathogenic | 0.8565 | pathogenic | -1.75 | Destabilizing | 0.819 | D | 0.761 | deleterious | None | None | None | None | N |
| T/F | 0.4841 | ambiguous | 0.4933 | ambiguous | -0.828 | Destabilizing | 0.856 | D | 0.765 | deleterious | None | None | None | None | N |
| T/G | 0.4006 | ambiguous | 0.4196 | ambiguous | -1.283 | Destabilizing | 0.071 | N | 0.712 | prob.delet. | None | None | None | None | N |
| T/H | 0.5745 | likely_pathogenic | 0.5929 | pathogenic | -1.606 | Destabilizing | 0.419 | N | 0.749 | deleterious | None | None | None | None | N |
| T/I | 0.2577 | likely_benign | 0.2515 | benign | 0.06 | Stabilizing | 0.002 | N | 0.523 | neutral | N | 0.469311057 | None | None | N |
| T/K | 0.7865 | likely_pathogenic | 0.7837 | pathogenic | -0.57 | Destabilizing | 0.827 | D | 0.752 | deleterious | N | 0.457883342 | None | None | N |
| T/L | 0.1941 | likely_benign | 0.1931 | benign | 0.06 | Stabilizing | 0.003 | N | 0.493 | neutral | None | None | None | None | N |
| T/M | 0.1521 | likely_benign | 0.1514 | benign | 0.179 | Stabilizing | 0.887 | D | 0.779 | deleterious | None | None | None | None | N |
| T/N | 0.388 | ambiguous | 0.3922 | ambiguous | -1.358 | Destabilizing | 0.082 | N | 0.695 | prob.neutral | None | None | None | None | N |
| T/P | 0.7515 | likely_pathogenic | 0.7589 | pathogenic | -0.231 | Destabilizing | 0.032 | N | 0.776 | deleterious | N | 0.482664356 | None | None | N |
| T/Q | 0.6806 | likely_pathogenic | 0.6908 | pathogenic | -1.215 | Destabilizing | 0.406 | N | 0.78 | deleterious | None | None | None | None | N |
| T/R | 0.671 | likely_pathogenic | 0.6665 | pathogenic | -0.731 | Destabilizing | 0.927 | D | 0.77 | deleterious | N | 0.451533373 | None | None | N |
| T/S | 0.1626 | likely_benign | 0.1662 | benign | -1.434 | Destabilizing | 0.002 | N | 0.557 | neutral | N | 0.423671981 | None | None | N |
| T/V | 0.1614 | likely_benign | 0.1578 | benign | -0.231 | Destabilizing | 0.001 | N | 0.311 | neutral | None | None | None | None | N |
| T/W | 0.896 | likely_pathogenic | 0.9061 | pathogenic | -1.056 | Destabilizing | 0.991 | D | 0.754 | deleterious | None | None | None | None | N |
| T/Y | 0.5387 | ambiguous | 0.5385 | ambiguous | -0.63 | Destabilizing | 0.909 | D | 0.785 | 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.