Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28420 | 85483;85484;85485 | chr2:178560874;178560873;178560872 | chr2:179425601;179425600;179425599 |
| N2AB | 26779 | 80560;80561;80562 | chr2:178560874;178560873;178560872 | chr2:179425601;179425600;179425599 |
| N2A | 25852 | 77779;77780;77781 | chr2:178560874;178560873;178560872 | chr2:179425601;179425600;179425599 |
| N2B | 19355 | 58288;58289;58290 | chr2:178560874;178560873;178560872 | chr2:179425601;179425600;179425599 |
| Novex-1 | 19480 | 58663;58664;58665 | chr2:178560874;178560873;178560872 | chr2:179425601;179425600;179425599 |
| Novex-2 | 19547 | 58864;58865;58866 | chr2:178560874;178560873;178560872 | chr2:179425601;179425600;179425599 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs773918512  |
-0.496 | 0.988 | N | 0.579 | 0.458 | 0.811669667423 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.54575E-04 | None | 0 | None | 0 | 7.81E-06 | 0 |
| C/R | rs773918512 |
-0.496 | 0.988 | N | 0.579 | 0.458 | 0.811669667423 | 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 |
| C/R | rs773918512 |
-0.496 | 0.988 | N | 0.579 | 0.458 | 0.811669667423 | gnomAD-4.0.0 | 5.12502E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85932E-05 | None | 0 | 0 | 4.78563E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4155 | ambiguous | 0.3907 | ambiguous | -0.934 | Destabilizing | 0.028 | N | 0.16 | neutral | None | None | None | None | N |
| C/D | 0.977 | likely_pathogenic | 0.9752 | pathogenic | -1.545 | Destabilizing | 0.991 | D | 0.587 | neutral | None | None | None | None | N |
| C/E | 0.9906 | likely_pathogenic | 0.9899 | pathogenic | -1.41 | Destabilizing | 0.991 | D | 0.591 | neutral | None | None | None | None | N |
| C/F | 0.7845 | likely_pathogenic | 0.7812 | pathogenic | -0.804 | Destabilizing | 0.996 | D | 0.553 | neutral | N | 0.501973386 | None | None | N |
| C/G | 0.3325 | likely_benign | 0.3236 | benign | -1.191 | Destabilizing | 0.852 | D | 0.51 | neutral | N | 0.495897 | None | None | N |
| C/H | 0.9677 | likely_pathogenic | 0.9639 | pathogenic | -1.707 | Destabilizing | 0.999 | D | 0.528 | neutral | None | None | None | None | N |
| C/I | 0.6965 | likely_pathogenic | 0.6662 | pathogenic | -0.301 | Destabilizing | 0.969 | D | 0.527 | neutral | None | None | None | None | N |
| C/K | 0.9919 | likely_pathogenic | 0.9911 | pathogenic | -0.751 | Destabilizing | 0.982 | D | 0.591 | neutral | None | None | None | None | N |
| C/L | 0.6417 | likely_pathogenic | 0.6347 | pathogenic | -0.301 | Destabilizing | 0.863 | D | 0.453 | neutral | None | None | None | None | N |
| C/M | 0.8242 | likely_pathogenic | 0.8231 | pathogenic | -0.093 | Destabilizing | 0.997 | D | 0.521 | neutral | None | None | None | None | N |
| C/N | 0.8751 | likely_pathogenic | 0.8718 | pathogenic | -1.068 | Destabilizing | 0.997 | D | 0.589 | neutral | None | None | None | None | N |
| C/P | 0.959 | likely_pathogenic | 0.9614 | pathogenic | -0.486 | Destabilizing | 0.991 | D | 0.587 | neutral | None | None | None | None | N |
| C/Q | 0.9773 | likely_pathogenic | 0.9744 | pathogenic | -0.944 | Destabilizing | 0.997 | D | 0.588 | neutral | None | None | None | None | N |
| C/R | 0.9463 | likely_pathogenic | 0.942 | pathogenic | -0.929 | Destabilizing | 0.988 | D | 0.579 | neutral | N | 0.51383667 | None | None | N |
| C/S | 0.3882 | ambiguous | 0.3454 | ambiguous | -1.246 | Destabilizing | 0.704 | D | 0.452 | neutral | N | 0.473605809 | None | None | N |
| C/T | 0.4521 | ambiguous | 0.4318 | ambiguous | -0.965 | Destabilizing | 0.939 | D | 0.45 | neutral | None | None | None | None | N |
| C/V | 0.4906 | ambiguous | 0.4798 | ambiguous | -0.486 | Destabilizing | 0.863 | D | 0.453 | neutral | None | None | None | None | N |
| C/W | 0.97 | likely_pathogenic | 0.9666 | pathogenic | -1.212 | Destabilizing | 0.999 | D | 0.469 | neutral | N | 0.51409016 | None | None | N |
| C/Y | 0.9089 | likely_pathogenic | 0.9024 | pathogenic | -0.858 | Destabilizing | 0.996 | D | 0.532 | neutral | N | 0.51383667 | 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.