Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3252 | 9979;9980;9981 | chr2:178764761;178764760;178764759 | chr2:179629488;179629487;179629486 |
| N2AB | 3252 | 9979;9980;9981 | chr2:178764761;178764760;178764759 | chr2:179629488;179629487;179629486 |
| N2A | 3252 | 9979;9980;9981 | chr2:178764761;178764760;178764759 | chr2:179629488;179629487;179629486 |
| N2B | 3206 | 9841;9842;9843 | chr2:178764761;178764760;178764759 | chr2:179629488;179629487;179629486 |
| Novex-1 | 3206 | 9841;9842;9843 | chr2:178764761;178764760;178764759 | chr2:179629488;179629487;179629486 |
| Novex-2 | 3206 | 9841;9842;9843 | chr2:178764761;178764760;178764759 | chr2:179629488;179629487;179629486 |
| Novex-3 | 3252 | 9979;9980;9981 | chr2:178764761;178764760;178764759 | chr2:179629488;179629487;179629486 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs1436391849  |
-0.815 | 0.988 | D | 0.454 | 0.424 | 0.692115123808 | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | N | None | 0 | 1.15727E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.63666E-04 |
| S/F | rs1436391849 |
-0.815 | 0.988 | D | 0.454 | 0.424 | 0.692115123808 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30941E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1436391849 |
-0.815 | 0.988 | D | 0.454 | 0.424 | 0.692115123808 | gnomAD-4.0.0 | 1.28087E-05 | None | None | None | None | N | None | 0 | 1.52527E-04 | None | 0 | 0 | None | 0 | 0 | 2.3919E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0915 | likely_benign | 0.1118 | benign | -0.588 | Destabilizing | 0.021 | N | 0.109 | neutral | N | 0.459204944 | None | None | N |
| S/C | 0.1994 | likely_benign | 0.3775 | ambiguous | -0.398 | Destabilizing | 0.999 | D | 0.307 | neutral | N | 0.505617886 | None | None | N |
| S/D | 0.8769 | likely_pathogenic | 0.942 | pathogenic | 0.266 | Stabilizing | 0.969 | D | 0.363 | neutral | None | None | None | None | N |
| S/E | 0.8647 | likely_pathogenic | 0.9163 | pathogenic | 0.251 | Stabilizing | 0.969 | D | 0.301 | neutral | None | None | None | None | N |
| S/F | 0.6658 | likely_pathogenic | 0.831 | pathogenic | -0.771 | Destabilizing | 0.988 | D | 0.454 | neutral | D | 0.562759758 | None | None | N |
| S/G | 0.1996 | likely_benign | 0.332 | benign | -0.82 | Destabilizing | 0.759 | D | 0.329 | neutral | None | None | None | None | N |
| S/H | 0.805 | likely_pathogenic | 0.8851 | pathogenic | -1.172 | Destabilizing | 0.999 | D | 0.303 | neutral | None | None | None | None | N |
| S/I | 0.4277 | ambiguous | 0.6307 | pathogenic | -0.085 | Destabilizing | 0.884 | D | 0.425 | neutral | None | None | None | None | N |
| S/K | 0.9617 | likely_pathogenic | 0.9803 | pathogenic | -0.548 | Destabilizing | 0.939 | D | 0.297 | neutral | None | None | None | None | N |
| S/L | 0.2656 | likely_benign | 0.4216 | ambiguous | -0.085 | Destabilizing | 0.759 | D | 0.386 | neutral | None | None | None | None | N |
| S/M | 0.4081 | ambiguous | 0.5769 | pathogenic | 0.011 | Stabilizing | 0.991 | D | 0.308 | neutral | None | None | None | None | N |
| S/N | 0.4573 | ambiguous | 0.6359 | pathogenic | -0.42 | Destabilizing | 0.99 | D | 0.417 | neutral | None | None | None | None | N |
| S/P | 0.4286 | ambiguous | 0.5748 | pathogenic | -0.219 | Destabilizing | 0.988 | D | 0.355 | neutral | N | 0.497691841 | None | None | N |
| S/Q | 0.8497 | likely_pathogenic | 0.8981 | pathogenic | -0.537 | Destabilizing | 0.997 | D | 0.331 | neutral | None | None | None | None | N |
| S/R | 0.9291 | likely_pathogenic | 0.9649 | pathogenic | -0.434 | Destabilizing | 0.991 | D | 0.343 | neutral | None | None | None | None | N |
| S/T | 0.1975 | likely_benign | 0.2936 | benign | -0.501 | Destabilizing | 0.826 | D | 0.39 | neutral | N | 0.494831948 | None | None | N |
| S/V | 0.3925 | ambiguous | 0.5723 | pathogenic | -0.219 | Destabilizing | 0.17 | N | 0.231 | neutral | None | None | None | None | N |
| S/W | 0.7462 | likely_pathogenic | 0.8588 | pathogenic | -0.754 | Destabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | N |
| S/Y | 0.553 | ambiguous | 0.7133 | pathogenic | -0.486 | Destabilizing | 0.996 | D | 0.438 | neutral | N | 0.504937772 | 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.