Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30808 | 92647;92648;92649 | chr2:178549204;178549203;178549202 | chr2:179413931;179413930;179413929 |
| N2AB | 29167 | 87724;87725;87726 | chr2:178549204;178549203;178549202 | chr2:179413931;179413930;179413929 |
| N2A | 28240 | 84943;84944;84945 | chr2:178549204;178549203;178549202 | chr2:179413931;179413930;179413929 |
| N2B | 21743 | 65452;65453;65454 | chr2:178549204;178549203;178549202 | chr2:179413931;179413930;179413929 |
| Novex-1 | 21868 | 65827;65828;65829 | chr2:178549204;178549203;178549202 | chr2:179413931;179413930;179413929 |
| Novex-2 | 21935 | 66028;66029;66030 | chr2:178549204;178549203;178549202 | chr2:179413931;179413930;179413929 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1698362464  |
None | 0.004 | N | 0.327 | 0.072 | 0.0666544352282 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| G/D | rs1698362464 |
None | 0.004 | N | 0.327 | 0.072 | 0.0666544352282 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0937 | likely_benign | 0.0915 | benign | -0.622 | Destabilizing | 0.199 | N | 0.547 | neutral | N | 0.356860704 | None | None | I |
| G/C | 0.1643 | likely_benign | 0.1563 | benign | -0.959 | Destabilizing | 0.99 | D | 0.861 | deleterious | N | 0.468049981 | None | None | I |
| G/D | 0.1464 | likely_benign | 0.1455 | benign | -0.486 | Destabilizing | 0.004 | N | 0.327 | neutral | N | 0.351702813 | None | None | I |
| G/E | 0.1465 | likely_benign | 0.1392 | benign | -0.581 | Destabilizing | 0.444 | N | 0.702 | prob.delet. | None | None | None | None | I |
| G/F | 0.4528 | ambiguous | 0.4556 | ambiguous | -1.054 | Destabilizing | 0.919 | D | 0.877 | deleterious | None | None | None | None | I |
| G/H | 0.2816 | likely_benign | 0.2726 | benign | -0.977 | Destabilizing | 0.977 | D | 0.785 | deleterious | None | None | None | None | I |
| G/I | 0.2209 | likely_benign | 0.2067 | benign | -0.427 | Destabilizing | 0.919 | D | 0.889 | deleterious | None | None | None | None | I |
| G/K | 0.2594 | likely_benign | 0.2519 | benign | -0.884 | Destabilizing | 0.737 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/L | 0.271 | likely_benign | 0.2692 | benign | -0.427 | Destabilizing | 0.848 | D | 0.843 | deleterious | None | None | None | None | I |
| G/M | 0.362 | ambiguous | 0.3563 | ambiguous | -0.447 | Destabilizing | 0.992 | D | 0.852 | deleterious | None | None | None | None | I |
| G/N | 0.1803 | likely_benign | 0.1876 | benign | -0.567 | Destabilizing | 0.444 | N | 0.612 | neutral | None | None | None | None | I |
| G/P | 0.3734 | ambiguous | 0.3669 | ambiguous | -0.453 | Destabilizing | 0.919 | D | 0.803 | deleterious | None | None | None | None | I |
| G/Q | 0.217 | likely_benign | 0.2079 | benign | -0.788 | Destabilizing | 0.848 | D | 0.821 | deleterious | None | None | None | None | I |
| G/R | 0.187 | likely_benign | 0.1783 | benign | -0.584 | Destabilizing | 0.808 | D | 0.817 | deleterious | N | 0.432531898 | None | None | I |
| G/S | 0.0833 | likely_benign | 0.0831 | benign | -0.887 | Destabilizing | 0.016 | N | 0.274 | neutral | N | 0.399630046 | None | None | I |
| G/T | 0.1289 | likely_benign | 0.1225 | benign | -0.896 | Destabilizing | 0.444 | N | 0.723 | deleterious | None | None | None | None | I |
| G/V | 0.1433 | likely_benign | 0.1336 | benign | -0.453 | Destabilizing | 0.808 | D | 0.843 | deleterious | N | 0.430089026 | None | None | I |
| G/W | 0.3767 | ambiguous | 0.3481 | ambiguous | -1.267 | Destabilizing | 0.992 | D | 0.73 | deleterious | None | None | None | None | I |
| G/Y | 0.3209 | likely_benign | 0.3114 | benign | -0.877 | Destabilizing | 0.992 | D | 0.861 | deleterious | None | None | None | None | I |
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.