Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22456 | 67591;67592;67593 | chr2:178579831;178579830;178579829 | chr2:179444558;179444557;179444556 |
| N2AB | 20815 | 62668;62669;62670 | chr2:178579831;178579830;178579829 | chr2:179444558;179444557;179444556 |
| N2A | 19888 | 59887;59888;59889 | chr2:178579831;178579830;178579829 | chr2:179444558;179444557;179444556 |
| N2B | 13391 | 40396;40397;40398 | chr2:178579831;178579830;178579829 | chr2:179444558;179444557;179444556 |
| Novex-1 | 13516 | 40771;40772;40773 | chr2:178579831;178579830;178579829 | chr2:179444558;179444557;179444556 |
| Novex-2 | 13583 | 40972;40973;40974 | chr2:178579831;178579830;178579829 | chr2:179444558;179444557;179444556 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs2047288544  |
None | 0.934 | N | 0.477 | 0.125 | 0.309839678437 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96696E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs2047288544 |
None | 0.934 | N | 0.477 | 0.125 | 0.309839678437 | gnomAD-4.0.0 | 1.97275E-05 | None | None | None | None | N | None | 0 | 1.96696E-04 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1202 | likely_benign | 0.111 | benign | -1.448 | Destabilizing | 0.022 | N | 0.139 | neutral | N | 0.431649251 | None | None | N |
| V/C | 0.6806 | likely_pathogenic | 0.6465 | pathogenic | -0.682 | Destabilizing | 0.998 | D | 0.519 | neutral | None | None | None | None | N |
| V/D | 0.3144 | likely_benign | 0.3204 | benign | -1.517 | Destabilizing | 0.974 | D | 0.628 | neutral | None | None | None | None | N |
| V/E | 0.1893 | likely_benign | 0.2057 | benign | -1.548 | Destabilizing | 0.891 | D | 0.605 | neutral | N | 0.397861964 | None | None | N |
| V/F | 0.1901 | likely_benign | 0.1945 | benign | -1.211 | Destabilizing | 0.949 | D | 0.549 | neutral | None | None | None | None | N |
| V/G | 0.1799 | likely_benign | 0.172 | benign | -1.729 | Destabilizing | 0.669 | D | 0.616 | neutral | N | 0.404385292 | None | None | N |
| V/H | 0.5114 | ambiguous | 0.4915 | ambiguous | -1.387 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| V/I | 0.0882 | likely_benign | 0.0805 | benign | -0.78 | Destabilizing | 0.525 | D | 0.438 | neutral | None | None | None | None | N |
| V/K | 0.263 | likely_benign | 0.2597 | benign | -1.323 | Destabilizing | 0.842 | D | 0.597 | neutral | None | None | None | None | N |
| V/L | 0.1563 | likely_benign | 0.1466 | benign | -0.78 | Destabilizing | 0.005 | N | 0.147 | neutral | N | 0.447445423 | None | None | N |
| V/M | 0.1243 | likely_benign | 0.114 | benign | -0.435 | Destabilizing | 0.934 | D | 0.477 | neutral | N | 0.449659009 | None | None | N |
| V/N | 0.2565 | likely_benign | 0.2386 | benign | -0.959 | Destabilizing | 0.974 | D | 0.64 | neutral | None | None | None | None | N |
| V/P | 0.721 | likely_pathogenic | 0.6708 | pathogenic | -0.97 | Destabilizing | 0.974 | D | 0.611 | neutral | None | None | None | None | N |
| V/Q | 0.2385 | likely_benign | 0.2378 | benign | -1.177 | Destabilizing | 0.991 | D | 0.628 | neutral | None | None | None | None | N |
| V/R | 0.2114 | likely_benign | 0.2135 | benign | -0.729 | Destabilizing | 0.974 | D | 0.646 | neutral | None | None | None | None | N |
| V/S | 0.1555 | likely_benign | 0.1475 | benign | -1.354 | Destabilizing | 0.728 | D | 0.561 | neutral | None | None | None | None | N |
| V/T | 0.1064 | likely_benign | 0.1022 | benign | -1.296 | Destabilizing | 0.029 | N | 0.116 | neutral | None | None | None | None | N |
| V/W | 0.758 | likely_pathogenic | 0.764 | pathogenic | -1.414 | Destabilizing | 0.998 | D | 0.672 | neutral | None | None | None | None | N |
| V/Y | 0.533 | ambiguous | 0.5198 | ambiguous | -1.165 | Destabilizing | 0.991 | D | 0.54 | 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.