Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9383 | 28372;28373;28374 | chr2:178711089;178711088;178711087 | chr2:179575816;179575815;179575814 |
| N2AB | 9066 | 27421;27422;27423 | chr2:178711089;178711088;178711087 | chr2:179575816;179575815;179575814 |
| N2A | 8139 | 24640;24641;24642 | chr2:178711089;178711088;178711087 | chr2:179575816;179575815;179575814 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs1197465402  |
-0.428 | 0.001 | None | 0.203 | 0.18 | 0.177238962908 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/A | rs1197465402 |
-0.428 | 0.001 | None | 0.203 | 0.18 | 0.177238962908 | gnomAD-4.0.0 | 1.62003E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78102E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1323755487 |
-1.153 | 0.773 | None | 0.555 | 0.408 | 0.708540034909 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29618E-04 | 0 |
| S/F | rs1323755487 |
-1.153 | 0.773 | None | 0.555 | 0.408 | 0.708540034909 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/F | rs1323755487 |
-1.153 | 0.773 | None | 0.555 | 0.408 | 0.708540034909 | gnomAD-4.0.0 | 1.31406E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93988E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1081 | likely_benign | 0.1078 | benign | -0.539 | Destabilizing | 0.001 | N | 0.203 | neutral | None | None | None | None | N |
| S/C | 0.2715 | likely_benign | 0.2475 | benign | -0.288 | Destabilizing | 0.928 | D | 0.51 | neutral | None | None | None | None | N |
| S/D | 0.5923 | likely_pathogenic | 0.5792 | pathogenic | 0.413 | Stabilizing | 0.241 | N | 0.441 | neutral | None | None | None | None | N |
| S/E | 0.6092 | likely_pathogenic | 0.6136 | pathogenic | 0.314 | Stabilizing | 0.008 | N | 0.314 | neutral | None | None | None | None | N |
| S/F | 0.2201 | likely_benign | 0.2093 | benign | -1.199 | Destabilizing | 0.773 | D | 0.555 | neutral | None | None | None | None | N |
| S/G | 0.177 | likely_benign | 0.1778 | benign | -0.622 | Destabilizing | 0.116 | N | 0.459 | neutral | None | None | None | None | N |
| S/H | 0.4037 | ambiguous | 0.3833 | ambiguous | -1.104 | Destabilizing | 0.005 | N | 0.409 | neutral | None | None | None | None | N |
| S/I | 0.219 | likely_benign | 0.2162 | benign | -0.446 | Destabilizing | 0.527 | D | 0.561 | neutral | None | None | None | None | N |
| S/K | 0.7094 | likely_pathogenic | 0.7058 | pathogenic | -0.328 | Destabilizing | 0.388 | N | 0.437 | neutral | None | None | None | None | N |
| S/L | 0.1494 | likely_benign | 0.1459 | benign | -0.446 | Destabilizing | 0.241 | N | 0.491 | neutral | None | None | None | None | N |
| S/M | 0.2896 | likely_benign | 0.2781 | benign | -0.142 | Destabilizing | 0.944 | D | 0.514 | neutral | None | None | None | None | N |
| S/N | 0.2106 | likely_benign | 0.2094 | benign | -0.04 | Destabilizing | 0.388 | N | 0.474 | neutral | None | None | None | None | N |
| S/P | 0.7855 | likely_pathogenic | 0.7867 | pathogenic | -0.451 | Destabilizing | 0.773 | D | 0.552 | neutral | None | None | None | None | N |
| S/Q | 0.5305 | ambiguous | 0.5258 | ambiguous | -0.297 | Destabilizing | 0.69 | D | 0.504 | neutral | None | None | None | None | N |
| S/R | 0.6281 | likely_pathogenic | 0.6237 | pathogenic | -0.157 | Destabilizing | 0.69 | D | 0.547 | neutral | None | None | None | None | N |
| S/T | 0.0837 | likely_benign | 0.0851 | benign | -0.212 | Destabilizing | 0.001 | N | 0.305 | neutral | None | None | None | None | N |
| S/V | 0.202 | likely_benign | 0.2008 | benign | -0.451 | Destabilizing | 0.241 | N | 0.501 | neutral | None | None | None | None | N |
| S/W | 0.5085 | ambiguous | 0.5106 | ambiguous | -1.166 | Destabilizing | 0.981 | D | 0.627 | neutral | None | None | None | None | N |
| S/Y | 0.2497 | likely_benign | 0.2545 | benign | -0.892 | Destabilizing | 0.627 | D | 0.553 | 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.