Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3701 | 11326;11327;11328 | chr2:178756375;178756374;178756373 | chr2:179621102;179621101;179621100 |
| 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 | 3530 | 10813;10814;10815 | chr2:178756375;178756374;178756373 | chr2:179621102;179621101;179621100 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1306774376  |
0.685 | None | None | None | 0.052 | None | 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 |
| E/K | rs1306774376 |
0.685 | None | None | None | 0.052 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs1306774376 |
0.685 | None | None | None | 0.052 | None | gnomAD-4.0.0 | 2.56195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39271E-06 | 1.33991E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1241 | likely_benign | None | None | -0.181 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/C | 0.7068 | likely_pathogenic | None | None | -0.224 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.1452 | likely_benign | None | None | -0.307 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/F | 0.615 | likely_pathogenic | None | None | -0.011 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.1062 | likely_benign | None | None | -0.358 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/H | 0.3567 | ambiguous | None | None | 0.468 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.2882 | likely_benign | None | None | 0.243 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.0799 | likely_benign | None | None | 0.374 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/L | 0.2715 | likely_benign | None | None | 0.243 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.3489 | ambiguous | None | None | 0.071 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.2283 | likely_benign | None | None | -0.026 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.3842 | ambiguous | None | None | 0.121 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.1139 | likely_benign | None | None | 0.023 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/R | 0.1387 | likely_benign | None | None | 0.668 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.1642 | likely_benign | None | None | -0.161 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.1665 | likely_benign | None | None | -0.008 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.1716 | likely_benign | None | None | 0.121 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/W | 0.7472 | likely_pathogenic | None | None | 0.123 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.5057 | ambiguous | None | None | 0.232 | Stabilizing | 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.