Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16164 | 48715;48716;48717 | chr2:178615455;178615454;178615453 | chr2:179480182;179480181;179480180 |
| N2AB | 14523 | 43792;43793;43794 | chr2:178615455;178615454;178615453 | chr2:179480182;179480181;179480180 |
| N2A | 13596 | 41011;41012;41013 | chr2:178615455;178615454;178615453 | chr2:179480182;179480181;179480180 |
| N2B | 7099 | 21520;21521;21522 | chr2:178615455;178615454;178615453 | chr2:179480182;179480181;179480180 |
| Novex-1 | 7224 | 21895;21896;21897 | chr2:178615455;178615454;178615453 | chr2:179480182;179480181;179480180 |
| Novex-2 | 7291 | 22096;22097;22098 | chr2:178615455;178615454;178615453 | chr2:179480182;179480181;179480180 |
| 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 | rs1040807161  |
None | 1.0 | N | 0.835 | 0.553 | 0.644489828286 | gnomAD-4.0.0 | 1.59457E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86485E-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 | 0.8456 | likely_pathogenic | 0.8942 | pathogenic | -2.345 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| W/C | 0.8684 | likely_pathogenic | 0.9122 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.460626444 | None | None | N |
| W/D | 0.9881 | likely_pathogenic | 0.9898 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/E | 0.9867 | likely_pathogenic | 0.9888 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| W/F | 0.3893 | ambiguous | 0.4376 | ambiguous | -1.464 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| W/G | 0.8195 | likely_pathogenic | 0.8726 | pathogenic | -2.543 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.51749739 | None | None | N |
| W/H | 0.9209 | likely_pathogenic | 0.9324 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/I | 0.7725 | likely_pathogenic | 0.8049 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/K | 0.9934 | likely_pathogenic | 0.9944 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| W/L | 0.7982 | likely_pathogenic | 0.8313 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.413061563 | None | None | N |
| W/M | 0.8782 | likely_pathogenic | 0.9012 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| W/N | 0.972 | likely_pathogenic | 0.9776 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/P | 0.9447 | likely_pathogenic | 0.9513 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/Q | 0.9846 | likely_pathogenic | 0.9882 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/R | 0.9888 | likely_pathogenic | 0.9905 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.518196125 | None | None | N |
| W/S | 0.8341 | likely_pathogenic | 0.8856 | pathogenic | -2.662 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.47521423 | None | None | N |
| W/T | 0.8937 | likely_pathogenic | 0.9145 | pathogenic | -2.533 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/V | 0.7276 | likely_pathogenic | 0.7612 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/Y | 0.5392 | ambiguous | 0.5972 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.683 | prob.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.