Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16389 | 49390;49391;49392 | chr2:178614232;178614231;178614230 | chr2:179478959;179478958;179478957 |
| N2AB | 14748 | 44467;44468;44469 | chr2:178614232;178614231;178614230 | chr2:179478959;179478958;179478957 |
| N2A | 13821 | 41686;41687;41688 | chr2:178614232;178614231;178614230 | chr2:179478959;179478958;179478957 |
| N2B | 7324 | 22195;22196;22197 | chr2:178614232;178614231;178614230 | chr2:179478959;179478958;179478957 |
| Novex-1 | 7449 | 22570;22571;22572 | chr2:178614232;178614231;178614230 | chr2:179478959;179478958;179478957 |
| Novex-2 | 7516 | 22771;22772;22773 | chr2:178614232;178614231;178614230 | chr2:179478959;179478958;179478957 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs1386540651  |
-1.717 | 0.999 | D | 0.645 | 0.307 | 0.260249123532 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| E/D | rs1386540651 |
-1.717 | 0.999 | D | 0.645 | 0.307 | 0.260249123532 | gnomAD-4.0.0 | 1.36931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31949E-05 | 0 |
| E/K | rs2154201588 |
None | 0.999 | D | 0.682 | 0.46 | 0.390060412749 | gnomAD-4.0.0 | 4.10788E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69936E-06 | 0 | 4.97595E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8906 | likely_pathogenic | 0.8625 | pathogenic | -1.149 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | D | 0.73015781 | None | None | N |
| E/C | 0.9876 | likely_pathogenic | 0.9851 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/D | 0.7144 | likely_pathogenic | 0.6568 | pathogenic | -1.608 | Destabilizing | 0.999 | D | 0.645 | neutral | D | 0.601394429 | None | None | N |
| E/F | 0.9804 | likely_pathogenic | 0.9729 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| E/G | 0.9162 | likely_pathogenic | 0.895 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.75291164 | None | None | N |
| E/H | 0.9644 | likely_pathogenic | 0.9499 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| E/I | 0.965 | likely_pathogenic | 0.9508 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| E/K | 0.9275 | likely_pathogenic | 0.9051 | pathogenic | -1.26 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | D | 0.662574095 | None | None | N |
| E/L | 0.9533 | likely_pathogenic | 0.9346 | pathogenic | 0.077 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/M | 0.9494 | likely_pathogenic | 0.9359 | pathogenic | 0.779 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| E/N | 0.9612 | likely_pathogenic | 0.9503 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/Q | 0.5959 | likely_pathogenic | 0.5448 | ambiguous | -1.267 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.510762718 | None | None | N |
| E/R | 0.9547 | likely_pathogenic | 0.9389 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| E/S | 0.8646 | likely_pathogenic | 0.8334 | pathogenic | -2.204 | Highly Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| E/T | 0.9476 | likely_pathogenic | 0.929 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/V | 0.9241 | likely_pathogenic | 0.8947 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.704788778 | None | None | N |
| E/W | 0.9889 | likely_pathogenic | 0.9843 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/Y | 0.9685 | likely_pathogenic | 0.9572 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.799 | 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.