Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3501 | 10726;10727;10728 | chr2:178757719;178757718;178757717 | chr2:179622446;179622445;179622444 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3455 | 10588;10589;10590 | chr2:178757719;178757718;178757717 | chr2:179622446;179622445;179622444 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | None | None | None | 0.211 | None | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 0 |
| N/S | None | None | None | None | None | 0.253 | None | gnomAD-4.0.0 | 1.20037E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31256E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.6756 | likely_pathogenic | None | None | -0.739 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.6936 | likely_pathogenic | None | None | 0.214 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.1465 | likely_benign | None | None | -0.337 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/E | 0.595 | likely_pathogenic | None | None | -0.282 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.9329 | likely_pathogenic | None | None | -0.618 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.4788 | ambiguous | None | None | -1.046 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.1992 | likely_benign | None | None | -0.951 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/I | 0.8854 | likely_pathogenic | None | None | 0.023 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/K | 0.5391 | ambiguous | None | None | -0.309 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/L | 0.739 | likely_pathogenic | None | None | 0.023 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.8631 | likely_pathogenic | None | None | 0.493 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.9823 | likely_pathogenic | None | None | -0.201 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.4734 | ambiguous | None | None | -0.742 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.5591 | ambiguous | None | None | -0.347 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.1609 | likely_benign | None | None | -0.694 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/T | 0.6377 | likely_pathogenic | None | None | -0.463 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/V | 0.8882 | likely_pathogenic | None | None | -0.201 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.9735 | likely_pathogenic | None | None | -0.454 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.555 | ambiguous | None | None | -0.264 | 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.