Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29581 | 88966;88967;88968 | chr2:178554606;178554605;178554604 | chr2:179419333;179419332;179419331 |
| N2AB | 27940 | 84043;84044;84045 | chr2:178554606;178554605;178554604 | chr2:179419333;179419332;179419331 |
| N2A | 27013 | 81262;81263;81264 | chr2:178554606;178554605;178554604 | chr2:179419333;179419332;179419331 |
| N2B | 20516 | 61771;61772;61773 | chr2:178554606;178554605;178554604 | chr2:179419333;179419332;179419331 |
| Novex-1 | 20641 | 62146;62147;62148 | chr2:178554606;178554605;178554604 | chr2:179419333;179419332;179419331 |
| Novex-2 | 20708 | 62347;62348;62349 | chr2:178554606;178554605;178554604 | chr2:179419333;179419332;179419331 |
| 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 | 0.677 | 0.587 | 0.565168447923 | gnomAD-4.0.0 | 3.18202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.04741E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9951 | likely_pathogenic | 0.9951 | pathogenic | -3.091 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| W/C | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.524760178 | None | None | N |
| W/D | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/E | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/F | 0.7794 | likely_pathogenic | 0.7582 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| W/G | 0.9815 | likely_pathogenic | 0.9827 | pathogenic | -3.275 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.541850475 | None | None | N |
| W/H | 0.9951 | likely_pathogenic | 0.9943 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| W/I | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| W/L | 0.9836 | likely_pathogenic | 0.9837 | pathogenic | -2.42 | Highly Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.522985751 | None | None | N |
| W/M | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -1.817 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| W/N | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/P | 0.9956 | likely_pathogenic | 0.9962 | pathogenic | -2.66 | Highly Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/R | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.530836564 | None | None | N |
| W/S | 0.9865 | likely_pathogenic | 0.9871 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.522225283 | None | None | N |
| W/T | 0.9953 | likely_pathogenic | 0.9954 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/V | 0.9948 | likely_pathogenic | 0.9949 | pathogenic | -2.66 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9304 | likely_pathogenic | 0.922 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.605 | 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.