Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32969 | 99130;99131;99132 | chr2:178539030;178539029;178539028 | chr2:179403757;179403756;179403755 |
| N2AB | 31328 | 94207;94208;94209 | chr2:178539030;178539029;178539028 | chr2:179403757;179403756;179403755 |
| N2A | 30401 | 91426;91427;91428 | chr2:178539030;178539029;178539028 | chr2:179403757;179403756;179403755 |
| N2B | 23904 | 71935;71936;71937 | chr2:178539030;178539029;178539028 | chr2:179403757;179403756;179403755 |
| Novex-1 | 24029 | 72310;72311;72312 | chr2:178539030;178539029;178539028 | chr2:179403757;179403756;179403755 |
| Novex-2 | 24096 | 72511;72512;72513 | chr2:178539030;178539029;178539028 | chr2:179403757;179403756;179403755 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1018386868  |
-1.199 | 0.999 | N | 0.6 | 0.322 | 0.369495900351 | 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 |
| Q/H | rs1018386868 |
-1.199 | 0.999 | N | 0.6 | 0.322 | 0.369495900351 | 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 |
| Q/H | rs1018386868 |
-1.199 | 0.999 | N | 0.6 | 0.322 | 0.369495900351 | gnomAD-4.0.0 | 1.42531E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78004E-05 | 0 | 3.20256E-05 |
| Q/K | None | None | 0.99 | N | 0.581 | 0.333 | 0.314716216878 | gnomAD-4.0.0 | 3.18276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86566E-05 | 0 |
| Q/R | rs727504185 |
-0.41 | 0.99 | N | 0.565 | 0.264 | 0.283371740733 | 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 |
| Q/R | rs727504185 |
-0.41 | 0.99 | N | 0.565 | 0.264 | 0.283371740733 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.0388E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4487 | ambiguous | 0.4502 | ambiguous | -1.443 | Destabilizing | 0.985 | D | 0.586 | neutral | None | None | None | None | N |
| Q/C | 0.7024 | likely_pathogenic | 0.7238 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| Q/D | 0.8989 | likely_pathogenic | 0.8873 | pathogenic | -2.068 | Highly Destabilizing | 0.998 | D | 0.546 | neutral | None | None | None | None | N |
| Q/E | 0.1306 | likely_benign | 0.1183 | benign | -1.741 | Destabilizing | 0.992 | D | 0.564 | neutral | N | 0.454851398 | None | None | N |
| Q/F | 0.8564 | likely_pathogenic | 0.8797 | pathogenic | -0.857 | Destabilizing | 0.996 | D | 0.731 | prob.delet. | None | None | None | None | N |
| Q/G | 0.734 | likely_pathogenic | 0.7077 | pathogenic | -1.891 | Destabilizing | 0.993 | D | 0.636 | neutral | None | None | None | None | N |
| Q/H | 0.5095 | ambiguous | 0.5421 | ambiguous | -1.397 | Destabilizing | 0.999 | D | 0.6 | neutral | N | 0.507091159 | None | None | N |
| Q/I | 0.4642 | ambiguous | 0.5138 | ambiguous | -0.191 | Destabilizing | 0.991 | D | 0.691 | prob.neutral | None | None | None | None | N |
| Q/K | 0.3133 | likely_benign | 0.2913 | benign | -0.513 | Destabilizing | 0.99 | D | 0.581 | neutral | N | 0.472842513 | None | None | N |
| Q/L | 0.22 | likely_benign | 0.2424 | benign | -0.191 | Destabilizing | 0.911 | D | 0.577 | neutral | N | 0.479616556 | None | None | N |
| Q/M | 0.3897 | ambiguous | 0.4367 | ambiguous | -0.086 | Destabilizing | 0.719 | D | 0.452 | neutral | None | None | None | None | N |
| Q/N | 0.6797 | likely_pathogenic | 0.7086 | pathogenic | -1.347 | Destabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | N |
| Q/P | 0.9888 | likely_pathogenic | 0.9868 | pathogenic | -0.587 | Destabilizing | 0.999 | D | 0.651 | neutral | N | 0.509756568 | None | None | N |
| Q/R | 0.2987 | likely_benign | 0.2835 | benign | -0.804 | Destabilizing | 0.99 | D | 0.565 | neutral | N | 0.472111794 | None | None | N |
| Q/S | 0.455 | ambiguous | 0.4777 | ambiguous | -1.691 | Destabilizing | 0.993 | D | 0.538 | neutral | None | None | None | None | N |
| Q/T | 0.356 | ambiguous | 0.3967 | ambiguous | -1.186 | Destabilizing | 0.993 | D | 0.579 | neutral | None | None | None | None | N |
| Q/V | 0.3367 | likely_benign | 0.3827 | ambiguous | -0.587 | Destabilizing | 0.971 | D | 0.597 | neutral | None | None | None | None | N |
| Q/W | 0.8736 | likely_pathogenic | 0.8675 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.7385 | likely_pathogenic | 0.7536 | pathogenic | -0.579 | Destabilizing | 0.999 | D | 0.663 | 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.