Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20469 | 61630;61631;61632 | chr2:178590320;178590319;178590318 | chr2:179455047;179455046;179455045 |
| N2AB | 18828 | 56707;56708;56709 | chr2:178590320;178590319;178590318 | chr2:179455047;179455046;179455045 |
| N2A | 17901 | 53926;53927;53928 | chr2:178590320;178590319;178590318 | chr2:179455047;179455046;179455045 |
| N2B | 11404 | 34435;34436;34437 | chr2:178590320;178590319;178590318 | chr2:179455047;179455046;179455045 |
| Novex-1 | 11529 | 34810;34811;34812 | chr2:178590320;178590319;178590318 | chr2:179455047;179455046;179455045 |
| Novex-2 | 11596 | 35011;35012;35013 | chr2:178590320;178590319;178590318 | chr2:179455047;179455046;179455045 |
| 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/N | rs752372724  |
0.465 | 1.0 | N | 0.801 | 0.348 | 0.167679373172 | gnomAD-2.1.1 | 4.71E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.01E-05 | 0 |
| D/N | rs752372724 |
0.465 | 1.0 | N | 0.801 | 0.348 | 0.167679373172 | gnomAD-4.0.0 | 1.70971E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.04036E-06 | 0 | 0 |
| D/V | rs1244702659 |
0.349 | 1.0 | N | 0.803 | 0.555 | 0.526995340713 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.5445E-04 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs1244702659 |
0.349 | 1.0 | N | 0.803 | 0.555 | 0.526995340713 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94401E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs1244702659 |
0.349 | 1.0 | N | 0.803 | 0.555 | 0.526995340713 | gnomAD-4.0.0 | 6.57748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94401E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8884 | likely_pathogenic | 0.8917 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.50413292 | None | None | N |
| D/C | 0.9894 | likely_pathogenic | 0.9883 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/E | 0.6788 | likely_pathogenic | 0.6498 | pathogenic | -0.289 | Destabilizing | 0.999 | D | 0.52 | neutral | N | 0.490838336 | None | None | N |
| D/F | 0.9916 | likely_pathogenic | 0.9931 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/G | 0.8696 | likely_pathogenic | 0.8425 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.472413563 | None | None | N |
| D/H | 0.9551 | likely_pathogenic | 0.9497 | pathogenic | 0.198 | Stabilizing | 1.0 | D | 0.893 | deleterious | N | 0.467640623 | None | None | N |
| D/I | 0.9808 | likely_pathogenic | 0.9833 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/K | 0.9813 | likely_pathogenic | 0.9759 | pathogenic | 0.407 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/L | 0.9717 | likely_pathogenic | 0.9735 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/M | 0.99 | likely_pathogenic | 0.9913 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/N | 0.6121 | likely_pathogenic | 0.5394 | ambiguous | 0.06 | Stabilizing | 1.0 | D | 0.801 | deleterious | N | 0.460639184 | None | None | N |
| D/P | 0.9761 | likely_pathogenic | 0.969 | pathogenic | 0.116 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/Q | 0.9703 | likely_pathogenic | 0.9644 | pathogenic | 0.089 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/R | 0.9857 | likely_pathogenic | 0.9825 | pathogenic | 0.602 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/S | 0.8519 | likely_pathogenic | 0.8257 | pathogenic | -0.024 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/T | 0.9544 | likely_pathogenic | 0.9508 | pathogenic | 0.118 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/V | 0.9382 | likely_pathogenic | 0.9421 | pathogenic | 0.116 | Stabilizing | 1.0 | D | 0.803 | deleterious | N | 0.488578807 | None | None | N |
| D/W | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/Y | 0.914 | likely_pathogenic | 0.9143 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.837 | deleterious | N | 0.478489949 | 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.