Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 124 | 595;596;597 | chr2:178800608;178800607;178800606 | chr2:179665335;179665334;179665333 |
| N2AB | 124 | 595;596;597 | chr2:178800608;178800607;178800606 | chr2:179665335;179665334;179665333 |
| N2A | 124 | 595;596;597 | chr2:178800608;178800607;178800606 | chr2:179665335;179665334;179665333 |
| N2B | 124 | 595;596;597 | chr2:178800608;178800607;178800606 | chr2:179665335;179665334;179665333 |
| Novex-1 | 124 | 595;596;597 | chr2:178800608;178800607;178800606 | chr2:179665335;179665334;179665333 |
| Novex-2 | 124 | 595;596;597 | chr2:178800608;178800607;178800606 | chr2:179665335;179665334;179665333 |
| Novex-3 | 124 | 595;596;597 | chr2:178800608;178800607;178800606 | chr2:179665335;179665334;179665333 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1307913669  |
-0.119 | 0.076 | N | 0.386 | 0.245 | 0.187945064343 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | -0.524(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| Q/R | rs1307913669 |
-0.119 | 0.076 | N | 0.386 | 0.245 | 0.187945064343 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | -0.524(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85984E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3717 | ambiguous | 0.3934 | ambiguous | -0.688 | Destabilizing | 0.148 | N | 0.433 | neutral | None | None | None | -0.155(TCAP) | N |
| Q/C | 0.9543 | likely_pathogenic | 0.9606 | pathogenic | -0.163 | Destabilizing | 0.912 | D | 0.545 | neutral | None | None | None | -0.24(TCAP) | N |
| Q/D | 0.6969 | likely_pathogenic | 0.7049 | pathogenic | -0.544 | Destabilizing | None | N | 0.206 | neutral | None | None | None | -0.148(TCAP) | N |
| Q/E | 0.133 | likely_benign | 0.1411 | benign | -0.408 | Destabilizing | 0.005 | N | 0.317 | neutral | N | 0.328194096 | None | -0.25(TCAP) | N |
| Q/F | 0.9191 | likely_pathogenic | 0.9282 | pathogenic | -0.224 | Destabilizing | 0.835 | D | 0.535 | neutral | None | None | None | -0.484(TCAP) | N |
| Q/G | 0.6021 | likely_pathogenic | 0.6263 | pathogenic | -1.076 | Destabilizing | 0.148 | N | 0.457 | neutral | None | None | None | -0.156(TCAP) | N |
| Q/H | 0.6045 | likely_pathogenic | 0.6182 | pathogenic | -0.736 | Destabilizing | 0.732 | D | 0.423 | neutral | N | 0.478171916 | None | 0.212(TCAP) | N |
| Q/I | 0.6519 | likely_pathogenic | 0.6876 | pathogenic | 0.317 | Stabilizing | 0.543 | D | 0.578 | neutral | None | None | None | -0.185(TCAP) | N |
| Q/K | 0.3026 | likely_benign | 0.314 | benign | -0.336 | Destabilizing | 0.05 | N | 0.393 | neutral | N | 0.442065511 | None | -0.638(TCAP) | N |
| Q/L | 0.3039 | likely_benign | 0.3273 | benign | 0.317 | Stabilizing | 0.204 | N | 0.495 | neutral | N | 0.48024201 | None | -0.185(TCAP) | N |
| Q/M | 0.5333 | ambiguous | 0.5518 | ambiguous | 0.597 | Stabilizing | 0.784 | D | 0.447 | neutral | None | None | None | 0.46(TCAP) | N |
| Q/N | 0.5524 | ambiguous | 0.5571 | ambiguous | -0.971 | Destabilizing | 0.025 | N | 0.364 | neutral | None | None | None | -0.722(TCAP) | N |
| Q/P | 0.8941 | likely_pathogenic | 0.9053 | pathogenic | 0.013 | Stabilizing | 0.162 | N | 0.459 | neutral | N | 0.454202526 | None | -0.168(TCAP) | N |
| Q/R | 0.3363 | likely_benign | 0.356 | ambiguous | -0.282 | Destabilizing | 0.076 | N | 0.386 | neutral | N | 0.438401734 | None | -0.524(TCAP) | N |
| Q/S | 0.3861 | ambiguous | 0.3888 | ambiguous | -1.125 | Destabilizing | 0.08 | N | 0.379 | neutral | None | None | None | -0.649(TCAP) | N |
| Q/T | 0.3352 | likely_benign | 0.3499 | ambiguous | -0.785 | Destabilizing | 0.007 | N | 0.428 | neutral | None | None | None | -0.661(TCAP) | N |
| Q/V | 0.4574 | ambiguous | 0.49 | ambiguous | 0.013 | Stabilizing | 0.092 | N | 0.495 | neutral | None | None | None | -0.168(TCAP) | N |
| Q/W | 0.9183 | likely_pathogenic | 0.9238 | pathogenic | -0.077 | Destabilizing | 0.981 | D | 0.557 | neutral | None | None | None | -0.618(TCAP) | N |
| Q/Y | 0.8562 | likely_pathogenic | 0.8705 | pathogenic | 0.151 | Stabilizing | 0.835 | D | 0.506 | neutral | None | None | None | -0.354(TCAP) | 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.