Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31865 | 95818;95819;95820 | chr2:178545517;178545516;178545515 | chr2:179410244;179410243;179410242 |
| N2AB | 30224 | 90895;90896;90897 | chr2:178545517;178545516;178545515 | chr2:179410244;179410243;179410242 |
| N2A | 29297 | 88114;88115;88116 | chr2:178545517;178545516;178545515 | chr2:179410244;179410243;179410242 |
| N2B | 22800 | 68623;68624;68625 | chr2:178545517;178545516;178545515 | chr2:179410244;179410243;179410242 |
| Novex-1 | 22925 | 68998;68999;69000 | chr2:178545517;178545516;178545515 | chr2:179410244;179410243;179410242 |
| Novex-2 | 22992 | 69199;69200;69201 | chr2:178545517;178545516;178545515 | chr2:179410244;179410243;179410242 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | None | None | 1.0 | N | 0.753 | 0.487 | 0.499473279415 | gnomAD-4.0.0 | 1.59155E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| D/E | rs745843064  |
-0.148 | 1.0 | N | 0.41 | 0.25 | 0.197625483188 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs1696661402 |
None | 1.0 | N | 0.732 | 0.475 | 0.35139820857 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| D/H | rs1696661402 |
None | 1.0 | N | 0.732 | 0.475 | 0.35139820857 | gnomAD-4.0.0 | 3.84385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.3936E-06 | 2.68046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7246 | likely_pathogenic | 0.7449 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.753 | deleterious | N | 0.515609068 | None | None | N |
| D/C | 0.9521 | likely_pathogenic | 0.9567 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/E | 0.4963 | ambiguous | 0.5176 | ambiguous | -0.388 | Destabilizing | 1.0 | D | 0.41 | neutral | N | 0.453405816 | None | None | N |
| D/F | 0.9721 | likely_pathogenic | 0.9727 | pathogenic | 0.607 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/G | 0.6148 | likely_pathogenic | 0.6593 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.466298994 | None | None | N |
| D/H | 0.8546 | likely_pathogenic | 0.8672 | pathogenic | 0.928 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.484340797 | None | None | N |
| D/I | 0.9542 | likely_pathogenic | 0.9551 | pathogenic | 0.787 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/K | 0.9259 | likely_pathogenic | 0.9365 | pathogenic | 0.249 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| D/L | 0.9357 | likely_pathogenic | 0.9351 | pathogenic | 0.787 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/M | 0.9751 | likely_pathogenic | 0.9769 | pathogenic | 0.629 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/N | 0.4085 | ambiguous | 0.4382 | ambiguous | -0.436 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.474110127 | None | None | N |
| D/P | 0.9807 | likely_pathogenic | 0.985 | pathogenic | 0.557 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/Q | 0.8672 | likely_pathogenic | 0.8799 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/R | 0.9196 | likely_pathogenic | 0.9283 | pathogenic | 0.643 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/S | 0.4922 | ambiguous | 0.5272 | ambiguous | -0.589 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/T | 0.8186 | likely_pathogenic | 0.8231 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| D/V | 0.8715 | likely_pathogenic | 0.8722 | pathogenic | 0.557 | Stabilizing | 1.0 | D | 0.823 | deleterious | N | 0.460601001 | None | None | N |
| D/W | 0.9935 | likely_pathogenic | 0.9944 | pathogenic | 0.796 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/Y | 0.8467 | likely_pathogenic | 0.8598 | pathogenic | 0.892 | Stabilizing | 1.0 | D | 0.791 | deleterious | N | 0.486644975 | 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.