Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32566 | 97921;97922;97923 | chr2:178541381;178541380;178541379 | chr2:179406108;179406107;179406106 |
| N2AB | 30925 | 92998;92999;93000 | chr2:178541381;178541380;178541379 | chr2:179406108;179406107;179406106 |
| N2A | 29998 | 90217;90218;90219 | chr2:178541381;178541380;178541379 | chr2:179406108;179406107;179406106 |
| N2B | 23501 | 70726;70727;70728 | chr2:178541381;178541380;178541379 | chr2:179406108;179406107;179406106 |
| Novex-1 | 23626 | 71101;71102;71103 | chr2:178541381;178541380;178541379 | chr2:179406108;179406107;179406106 |
| Novex-2 | 23693 | 71302;71303;71304 | chr2:178541381;178541380;178541379 | chr2:179406108;179406107;179406106 |
| 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 | None | None | 0.999 | N | 0.573 | 0.304 | 0.452072420954 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/K | rs1258453837  |
0.196 | 0.999 | N | 0.681 | 0.395 | 0.426436156839 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| E/K | rs1258453837 |
0.196 | 0.999 | N | 0.681 | 0.395 | 0.426436156839 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs1258453837 |
0.196 | 0.999 | N | 0.681 | 0.395 | 0.426436156839 | gnomAD-4.0.0 | 3.86381E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.57545E-05 | 0 | 4.8091E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2835 | likely_benign | 0.3659 | ambiguous | -0.503 | Destabilizing | 0.999 | D | 0.661 | neutral | N | 0.519094877 | None | None | N |
| E/C | 0.9541 | likely_pathogenic | 0.9672 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| E/D | 0.4509 | ambiguous | 0.5039 | ambiguous | -0.746 | Destabilizing | 0.999 | D | 0.573 | neutral | N | 0.484993269 | None | None | N |
| E/F | 0.9688 | likely_pathogenic | 0.9791 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| E/G | 0.5259 | ambiguous | 0.6025 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.489361362 | None | None | N |
| E/H | 0.8466 | likely_pathogenic | 0.896 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| E/I | 0.8002 | likely_pathogenic | 0.8552 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| E/K | 0.3824 | ambiguous | 0.499 | ambiguous | -0.15 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.47081258 | None | None | N |
| E/L | 0.8455 | likely_pathogenic | 0.8939 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| E/M | 0.8323 | likely_pathogenic | 0.8845 | pathogenic | 0.464 | Stabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| E/N | 0.7148 | likely_pathogenic | 0.7822 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| E/P | 0.5887 | likely_pathogenic | 0.6717 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| E/Q | 0.2996 | likely_benign | 0.367 | ambiguous | -0.287 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.51830823 | None | None | N |
| E/R | 0.5234 | ambiguous | 0.6308 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| E/S | 0.5024 | ambiguous | 0.5892 | pathogenic | -0.53 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| E/T | 0.6371 | likely_pathogenic | 0.7303 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| E/V | 0.57 | likely_pathogenic | 0.6516 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.475611973 | None | None | N |
| E/W | 0.986 | likely_pathogenic | 0.992 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/Y | 0.9397 | likely_pathogenic | 0.9602 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.643 | neutral | 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.