Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3660 | 11203;11204;11205 | chr2:178756498;178756497;178756496 | chr2:179621225;179621224;179621223 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3489 | 10690;10691;10692 | chr2:178756498;178756497;178756496 | chr2:179621225;179621224;179621223 |
| 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 | None | None | None | None | None | 0.226 | None | gnomAD-4.0.0 | 6.84229E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 0 | 0 |
| P/S | rs375986676  |
-2.34 | None | None | None | 0.227 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/S | rs375986676 |
-2.34 | None | None | None | 0.227 | None | gnomAD-4.0.0 | 3.42115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49728E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2777 | likely_benign | None | None | -1.772 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/C | 0.9034 | likely_pathogenic | None | None | -1.192 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/D | 0.9533 | likely_pathogenic | None | None | -1.796 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/E | 0.8514 | likely_pathogenic | None | None | -1.759 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/F | 0.9629 | likely_pathogenic | None | None | -1.301 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/G | 0.8087 | likely_pathogenic | None | None | -2.14 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/H | 0.8569 | likely_pathogenic | None | None | -1.688 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/I | 0.7998 | likely_pathogenic | None | None | -0.837 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/K | 0.8816 | likely_pathogenic | None | None | -1.604 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/L | 0.4998 | ambiguous | None | None | -0.837 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/M | 0.8559 | likely_pathogenic | None | None | -0.613 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/N | 0.9203 | likely_pathogenic | None | None | -1.445 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Q | 0.738 | likely_pathogenic | None | None | -1.572 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/R | 0.7685 | likely_pathogenic | None | None | -1.059 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/S | 0.545 | ambiguous | None | None | -1.974 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/T | 0.5141 | ambiguous | None | None | -1.822 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/V | 0.6497 | likely_pathogenic | None | None | -1.115 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/W | 0.9831 | likely_pathogenic | None | None | -1.551 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Y | 0.9573 | likely_pathogenic | None | None | -1.27 | 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.