Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25815 | 77668;77669;77670 | chr2:178568689;178568688;178568687 | chr2:179433416;179433415;179433414 |
| N2AB | 24174 | 72745;72746;72747 | chr2:178568689;178568688;178568687 | chr2:179433416;179433415;179433414 |
| N2A | 23247 | 69964;69965;69966 | chr2:178568689;178568688;178568687 | chr2:179433416;179433415;179433414 |
| N2B | 16750 | 50473;50474;50475 | chr2:178568689;178568688;178568687 | chr2:179433416;179433415;179433414 |
| Novex-1 | 16875 | 50848;50849;50850 | chr2:178568689;178568688;178568687 | chr2:179433416;179433415;179433414 |
| Novex-2 | 16942 | 51049;51050;51051 | chr2:178568689;178568688;178568687 | chr2:179433416;179433415;179433414 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs777970390  |
-1.383 | 0.988 | N | 0.798 | 0.262 | 0.471700387322 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| L/F | rs777970390 |
-1.383 | 0.988 | N | 0.798 | 0.262 | 0.471700387322 | gnomAD-4.0.0 | 2.05316E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69881E-06 | 0 | 0 |
| L/W | None | None | 0.999 | N | 0.821 | 0.495 | 0.720432007824 | gnomAD-4.0.0 | 1.59222E-06 | None | None | None | None | N | None | 0 | 2.28781E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.7366 | likely_pathogenic | 0.7666 | pathogenic | -2.099 | Highly Destabilizing | 0.938 | D | 0.627 | neutral | None | None | None | None | N |
| L/C | 0.6797 | likely_pathogenic | 0.7101 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/D | 0.995 | likely_pathogenic | 0.9962 | pathogenic | -1.26 | Destabilizing | 0.998 | D | 0.877 | deleterious | None | None | None | None | N |
| L/E | 0.9693 | likely_pathogenic | 0.9753 | pathogenic | -1.123 | Destabilizing | 0.995 | D | 0.846 | deleterious | None | None | None | None | N |
| L/F | 0.3292 | likely_benign | 0.3746 | ambiguous | -1.188 | Destabilizing | 0.988 | D | 0.798 | deleterious | N | 0.470165973 | None | None | N |
| L/G | 0.9522 | likely_pathogenic | 0.9617 | pathogenic | -2.567 | Highly Destabilizing | 0.995 | D | 0.845 | deleterious | None | None | None | None | N |
| L/H | 0.8968 | likely_pathogenic | 0.9186 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/I | 0.1221 | likely_benign | 0.1213 | benign | -0.814 | Destabilizing | 0.938 | D | 0.543 | neutral | None | None | None | None | N |
| L/K | 0.9277 | likely_pathogenic | 0.9391 | pathogenic | -1.541 | Destabilizing | 0.995 | D | 0.836 | deleterious | None | None | None | None | N |
| L/M | 0.1518 | likely_benign | 0.1635 | benign | -0.851 | Destabilizing | 0.994 | D | 0.769 | deleterious | N | 0.477509807 | None | None | N |
| L/N | 0.9706 | likely_pathogenic | 0.9779 | pathogenic | -1.6 | Destabilizing | 0.998 | D | 0.875 | deleterious | None | None | None | None | N |
| L/P | 0.9937 | likely_pathogenic | 0.9948 | pathogenic | -1.215 | Destabilizing | 0.998 | D | 0.87 | deleterious | None | None | None | None | N |
| L/Q | 0.8378 | likely_pathogenic | 0.8656 | pathogenic | -1.558 | Destabilizing | 0.998 | D | 0.874 | deleterious | None | None | None | None | N |
| L/R | 0.8772 | likely_pathogenic | 0.8941 | pathogenic | -1.146 | Destabilizing | 0.995 | D | 0.869 | deleterious | None | None | None | None | N |
| L/S | 0.9279 | likely_pathogenic | 0.9444 | pathogenic | -2.422 | Highly Destabilizing | 0.994 | D | 0.842 | deleterious | N | 0.495867551 | None | None | N |
| L/T | 0.7436 | likely_pathogenic | 0.7805 | pathogenic | -2.13 | Highly Destabilizing | 0.991 | D | 0.787 | deleterious | None | None | None | None | N |
| L/V | 0.1301 | likely_benign | 0.1304 | benign | -1.215 | Destabilizing | 0.067 | N | 0.343 | neutral | N | 0.468884196 | None | None | N |
| L/W | 0.7851 | likely_pathogenic | 0.8293 | pathogenic | -1.299 | Destabilizing | 0.999 | D | 0.821 | deleterious | N | 0.519251725 | None | None | N |
| L/Y | 0.8251 | likely_pathogenic | 0.8671 | pathogenic | -1.08 | Destabilizing | 0.995 | D | 0.861 | 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.