Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18677 | 56254;56255;56256 | chr2:178600875;178600874;178600873 | chr2:179465602;179465601;179465600 |
| N2AB | 17036 | 51331;51332;51333 | chr2:178600875;178600874;178600873 | chr2:179465602;179465601;179465600 |
| N2A | 16109 | 48550;48551;48552 | chr2:178600875;178600874;178600873 | chr2:179465602;179465601;179465600 |
| N2B | 9612 | 29059;29060;29061 | chr2:178600875;178600874;178600873 | chr2:179465602;179465601;179465600 |
| Novex-1 | 9737 | 29434;29435;29436 | chr2:178600875;178600874;178600873 | chr2:179465602;179465601;179465600 |
| Novex-2 | 9804 | 29635;29636;29637 | chr2:178600875;178600874;178600873 | chr2:179465602;179465601;179465600 |
| 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 | rs2053234064  |
None | None | N | None | 0.114 | None | gnomAD-4.0.0 | 1.59354E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4339E-05 | 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 | 0.2813 | likely_benign | 0.3007 | benign | -1.403 | Destabilizing | None | None | None | None | N | 0.50854981 | None | None | N |
| V/C | 0.7178 | likely_pathogenic | 0.7026 | pathogenic | -1.198 | Destabilizing | 0.001 | N | 0.447 | neutral | None | None | None | None | N |
| V/D | 0.818 | likely_pathogenic | 0.8328 | pathogenic | -1.014 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.6394 | likely_pathogenic | 0.6628 | pathogenic | -0.865 | Destabilizing | None | None | None | None | N | 0.493330472 | None | None | N |
| V/F | 0.2393 | likely_benign | 0.2256 | benign | -0.741 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.5139 | ambiguous | 0.5324 | ambiguous | -1.857 | Destabilizing | None | None | None | None | N | 0.494090941 | None | None | N |
| V/H | 0.7804 | likely_pathogenic | 0.772 | pathogenic | -1.278 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.0799 | likely_benign | 0.0752 | benign | -0.198 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.5991 | likely_pathogenic | 0.6255 | pathogenic | -1.099 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.2063 | likely_benign | 0.1965 | benign | -0.198 | Destabilizing | None | None | None | None | N | 0.482806003 | None | None | N |
| V/M | 0.1781 | likely_benign | 0.1576 | benign | -0.391 | Destabilizing | None | None | None | None | N | 0.475479707 | None | None | N |
| V/N | 0.6542 | likely_pathogenic | 0.6621 | pathogenic | -1.286 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9596 | likely_pathogenic | 0.9598 | pathogenic | -0.566 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.5638 | ambiguous | 0.5742 | pathogenic | -1.176 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.5444 | ambiguous | 0.577 | pathogenic | -0.905 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.481 | ambiguous | 0.5074 | ambiguous | -1.974 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.2987 | likely_benign | 0.3032 | benign | -1.667 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.8962 | likely_pathogenic | 0.8668 | pathogenic | -1.026 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.6606 | likely_pathogenic | 0.6501 | pathogenic | -0.65 | Destabilizing | None | None | None | None | 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.