Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16745 | 50458;50459;50460 | chr2:178612292;178612291;178612290 | chr2:179477019;179477018;179477017 |
| N2AB | 15104 | 45535;45536;45537 | chr2:178612292;178612291;178612290 | chr2:179477019;179477018;179477017 |
| N2A | 14177 | 42754;42755;42756 | chr2:178612292;178612291;178612290 | chr2:179477019;179477018;179477017 |
| N2B | 7680 | 23263;23264;23265 | chr2:178612292;178612291;178612290 | chr2:179477019;179477018;179477017 |
| Novex-1 | 7805 | 23638;23639;23640 | chr2:178612292;178612291;178612290 | chr2:179477019;179477018;179477017 |
| Novex-2 | 7872 | 23839;23840;23841 | chr2:178612292;178612291;178612290 | chr2:179477019;179477018;179477017 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs2056479723  |
None | 1.0 | D | 0.749 | 0.393 | 0.509463317838 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs2056479723 |
None | 1.0 | D | 0.749 | 0.393 | 0.509463317838 | gnomAD-4.0.0 | 1.86092E-06 | None | None | None | None | N | None | 1.33686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09967E-05 | 1.60349E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8515 | likely_pathogenic | 0.8682 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.736 | deleterious | None | None | None | None | N |
| A/D | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -2.704 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.700060304 | None | None | N |
| A/E | 0.9957 | likely_pathogenic | 0.9947 | pathogenic | -2.516 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/F | 0.989 | likely_pathogenic | 0.9903 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/G | 0.7445 | likely_pathogenic | 0.7462 | pathogenic | -1.915 | Destabilizing | 0.999 | D | 0.563 | neutral | D | 0.698542044 | None | None | N |
| A/H | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/I | 0.9673 | likely_pathogenic | 0.9625 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/K | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/L | 0.8468 | likely_pathogenic | 0.8621 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| A/M | 0.9709 | likely_pathogenic | 0.9701 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/N | 0.9938 | likely_pathogenic | 0.9933 | pathogenic | -1.714 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/P | 0.9535 | likely_pathogenic | 0.9324 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.658981175 | None | None | N |
| A/Q | 0.9876 | likely_pathogenic | 0.9875 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/R | 0.9905 | likely_pathogenic | 0.9914 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/S | 0.5907 | likely_pathogenic | 0.5507 | ambiguous | -2.098 | Highly Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.694128589 | None | None | N |
| A/T | 0.912 | likely_pathogenic | 0.8822 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.649472987 | None | None | N |
| A/V | 0.8743 | likely_pathogenic | 0.8424 | pathogenic | -0.733 | Destabilizing | 0.999 | D | 0.651 | prob.neutral | D | 0.601949893 | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| A/Y | 0.9957 | likely_pathogenic | 0.9965 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.84 | deleterious | 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.