Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20572 | 61939;61940;61941 | chr2:178590011;178590010;178590009 | chr2:179454738;179454737;179454736 |
| N2AB | 18931 | 57016;57017;57018 | chr2:178590011;178590010;178590009 | chr2:179454738;179454737;179454736 |
| N2A | 18004 | 54235;54236;54237 | chr2:178590011;178590010;178590009 | chr2:179454738;179454737;179454736 |
| N2B | 11507 | 34744;34745;34746 | chr2:178590011;178590010;178590009 | chr2:179454738;179454737;179454736 |
| Novex-1 | 11632 | 35119;35120;35121 | chr2:178590011;178590010;178590009 | chr2:179454738;179454737;179454736 |
| Novex-2 | 11699 | 35320;35321;35322 | chr2:178590011;178590010;178590009 | chr2:179454738;179454737;179454736 |
| 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/A | None | None | 0.989 | N | 0.728 | 0.402 | 0.306695030598 | gnomAD-4.0.0 | 7.52908E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89629E-06 | 0 | 0 |
| P/S | rs1333184630  |
-1.49 | 0.989 | N | 0.77 | 0.411 | 0.374076547971 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs1333184630 |
-1.49 | 0.989 | N | 0.77 | 0.411 | 0.374076547971 | gnomAD-4.0.0 | 6.84463E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15969E-05 | 0 |
| P/T | rs1333184630 |
None | 0.997 | N | 0.783 | 0.476 | 0.468504517574 | 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 |
| P/T | rs1333184630 |
None | 0.997 | N | 0.783 | 0.476 | 0.468504517574 | gnomAD-4.0.0 | 6.57765E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47158E-05 | 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 | 0.1211 | likely_benign | 0.1223 | benign | -1.361 | Destabilizing | 0.989 | D | 0.728 | prob.delet. | N | 0.474474522 | None | None | N |
| P/C | 0.6457 | likely_pathogenic | 0.6259 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/D | 0.7765 | likely_pathogenic | 0.7594 | pathogenic | -1.36 | Destabilizing | 0.998 | D | 0.783 | deleterious | None | None | None | None | N |
| P/E | 0.5197 | ambiguous | 0.4843 | ambiguous | -1.421 | Destabilizing | 0.983 | D | 0.764 | deleterious | None | None | None | None | N |
| P/F | 0.642 | likely_pathogenic | 0.6013 | pathogenic | -1.237 | Destabilizing | 0.998 | D | 0.854 | deleterious | None | None | None | None | N |
| P/G | 0.6013 | likely_pathogenic | 0.6116 | pathogenic | -1.616 | Destabilizing | 0.992 | D | 0.825 | deleterious | None | None | None | None | N |
| P/H | 0.3675 | ambiguous | 0.3228 | benign | -1.2 | Destabilizing | 0.121 | N | 0.515 | neutral | N | 0.483742729 | None | None | N |
| P/I | 0.4029 | ambiguous | 0.3645 | ambiguous | -0.782 | Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | N |
| P/K | 0.5083 | ambiguous | 0.4847 | ambiguous | -1.105 | Destabilizing | 0.995 | D | 0.776 | deleterious | None | None | None | None | N |
| P/L | 0.2192 | likely_benign | 0.2058 | benign | -0.782 | Destabilizing | 0.997 | D | 0.837 | deleterious | D | 0.52447069 | None | None | N |
| P/M | 0.4628 | ambiguous | 0.4349 | ambiguous | -0.452 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/N | 0.5749 | likely_pathogenic | 0.5649 | pathogenic | -0.747 | Destabilizing | 0.995 | D | 0.826 | deleterious | None | None | None | None | N |
| P/Q | 0.2869 | likely_benign | 0.2653 | benign | -1.023 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
| P/R | 0.3632 | ambiguous | 0.3373 | benign | -0.501 | Destabilizing | 0.994 | D | 0.843 | deleterious | N | 0.496705196 | None | None | N |
| P/S | 0.2523 | likely_benign | 0.2492 | benign | -1.162 | Destabilizing | 0.989 | D | 0.77 | deleterious | N | 0.471586275 | None | None | N |
| P/T | 0.2362 | likely_benign | 0.2226 | benign | -1.131 | Destabilizing | 0.997 | D | 0.783 | deleterious | N | 0.49450315 | None | None | N |
| P/V | 0.2965 | likely_benign | 0.2748 | benign | -0.941 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| P/W | 0.8742 | likely_pathogenic | 0.845 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Y | 0.6418 | likely_pathogenic | 0.603 | pathogenic | -1.111 | Destabilizing | 0.995 | D | 0.858 | 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.