Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3494 | 10705;10706;10707 | chr2:178757740;178757739;178757738 | chr2:179622467;179622466;179622465 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3448 | 10567;10568;10569 | chr2:178757740;178757739;178757738 | chr2:179622467;179622466;179622465 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1561101666  |
None | None | None | None | 0.404 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs1561101666 |
None | None | None | None | 0.404 | None | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77346E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5234 | ambiguous | None | None | -1.947 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/C | 0.9678 | likely_pathogenic | None | None | -1.53 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/D | 0.9954 | likely_pathogenic | None | None | -2.22 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/E | 0.9828 | likely_pathogenic | None | None | -2.126 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/F | 0.9922 | likely_pathogenic | None | None | -1.362 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/G | 0.9632 | likely_pathogenic | None | None | -2.379 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/H | 0.9831 | likely_pathogenic | None | None | -2.032 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/I | 0.8764 | likely_pathogenic | None | None | -0.805 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/K | 0.9912 | likely_pathogenic | None | None | -1.672 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/L | 0.8048 | likely_pathogenic | None | None | -0.805 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/M | 0.9411 | likely_pathogenic | None | None | -0.73 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/N | 0.9888 | likely_pathogenic | None | None | -1.659 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Q | 0.9656 | likely_pathogenic | None | None | -1.712 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/R | 0.9773 | likely_pathogenic | None | None | -1.266 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/S | 0.9156 | likely_pathogenic | None | None | -2.239 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/T | 0.8044 | likely_pathogenic | None | None | -2.02 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/V | 0.7592 | likely_pathogenic | None | None | -1.154 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/W | 0.9977 | likely_pathogenic | None | None | -1.706 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Y | 0.9924 | likely_pathogenic | None | None | -1.382 | 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.