Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27417 | 82474;82475;82476 | chr2:178563883;178563882;178563881 | chr2:179428610;179428609;179428608 |
| N2AB | 25776 | 77551;77552;77553 | chr2:178563883;178563882;178563881 | chr2:179428610;179428609;179428608 |
| N2A | 24849 | 74770;74771;74772 | chr2:178563883;178563882;178563881 | chr2:179428610;179428609;179428608 |
| N2B | 18352 | 55279;55280;55281 | chr2:178563883;178563882;178563881 | chr2:179428610;179428609;179428608 |
| Novex-1 | 18477 | 55654;55655;55656 | chr2:178563883;178563882;178563881 | chr2:179428610;179428609;179428608 |
| Novex-2 | 18544 | 55855;55856;55857 | chr2:178563883;178563882;178563881 | chr2:179428610;179428609;179428608 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.692 | 0.618 | 0.661678411477 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85861E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9961 | likely_pathogenic | 0.9948 | pathogenic | -3.097 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/C | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.524009255 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| W/F | 0.767 | likely_pathogenic | 0.7492 | pathogenic | -2.014 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| W/G | 0.9876 | likely_pathogenic | 0.9836 | pathogenic | -3.282 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.531642577 | None | None | N |
| W/H | 0.9952 | likely_pathogenic | 0.9939 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/I | 0.9968 | likely_pathogenic | 0.9958 | pathogenic | -2.426 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/L | 0.986 | likely_pathogenic | 0.9823 | pathogenic | -2.426 | Highly Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.52122087 | None | None | N |
| W/M | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/N | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| W/P | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -2.665 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.531389088 | None | None | N |
| W/S | 0.991 | likely_pathogenic | 0.9882 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.519525803 | None | None | N |
| W/T | 0.9974 | likely_pathogenic | 0.9963 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| W/V | 0.9949 | likely_pathogenic | 0.9934 | pathogenic | -2.665 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| W/Y | 0.9179 | likely_pathogenic | 0.908 | pathogenic | -1.724 | Destabilizing | 1.0 | D | 0.599 | 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.