Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16698 | 50317;50318;50319 | chr2:178612433;178612432;178612431 | chr2:179477160;179477159;179477158 |
| N2AB | 15057 | 45394;45395;45396 | chr2:178612433;178612432;178612431 | chr2:179477160;179477159;179477158 |
| N2A | 14130 | 42613;42614;42615 | chr2:178612433;178612432;178612431 | chr2:179477160;179477159;179477158 |
| N2B | 7633 | 23122;23123;23124 | chr2:178612433;178612432;178612431 | chr2:179477160;179477159;179477158 |
| Novex-1 | 7758 | 23497;23498;23499 | chr2:178612433;178612432;178612431 | chr2:179477160;179477159;179477158 |
| Novex-2 | 7825 | 23698;23699;23700 | chr2:178612433;178612432;178612431 | chr2:179477160;179477159;179477158 |
| 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/R | None | None | 1.0 | D | 0.725 | 0.61 | 0.713184890557 | gnomAD-4.0.0 | 1.59388E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8848E-05 | 0 | 0 | 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 | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -3.034 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/C | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.673 | neutral | D | 0.670919859 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -2.347 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| W/F | 0.8156 | likely_pathogenic | 0.8299 | pathogenic | -1.81 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| W/G | 0.9945 | likely_pathogenic | 0.9968 | pathogenic | -3.235 | Highly Destabilizing | 1.0 | D | 0.64 | neutral | D | 0.74213918 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| W/I | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/L | 0.9933 | likely_pathogenic | 0.9949 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.64 | neutral | D | 0.690813014 | None | None | N |
| W/M | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| W/N | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.254 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/P | 0.9987 | likely_pathogenic | 0.9993 | pathogenic | -2.551 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.721066562 | None | None | N |
| W/S | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -2.592 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.704919101 | None | None | N |
| W/T | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -2.453 | Highly Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| W/V | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -2.551 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9638 | likely_pathogenic | 0.9632 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.555 | 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.