Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9560 | 28903;28904;28905 | chr2:178709641;178709640;178709639 | chr2:179574368;179574367;179574366 |
| N2AB | 9243 | 27952;27953;27954 | chr2:178709641;178709640;178709639 | chr2:179574368;179574367;179574366 |
| N2A | 8316 | 25171;25172;25173 | chr2:178709641;178709640;178709639 | chr2:179574368;179574367;179574366 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs377713076  |
-0.585 | 1.0 | None | 0.589 | 0.482 | 0.185906805712 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs377713076 |
-0.585 | 1.0 | None | 0.589 | 0.482 | 0.185906805712 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | N | None | 2.98739E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs771843862 |
-0.165 | 1.0 | None | 0.824 | 0.64 | 0.540606920606 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29568E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs771843862 |
-0.165 | 1.0 | None | 0.824 | 0.64 | 0.540606920606 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs771843862 |
-0.165 | 1.0 | None | 0.824 | 0.64 | 0.540606920606 | gnomAD-4.0.0 | 1.85897E-06 | None | None | None | None | N | None | 4.0047E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs771843862 |
-0.652 | 1.0 | None | 0.777 | 0.588 | 0.523546030903 | gnomAD-2.1.1 | 1.3648E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.07843E-03 | None | 0 | 8.86E-06 | 0 |
| D/N | rs771843862 |
-0.652 | 1.0 | None | 0.777 | 0.588 | 0.523546030903 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| D/N | rs771843862 |
-0.652 | 1.0 | None | 0.777 | 0.588 | 0.523546030903 | gnomAD-4.0.0 | 7.62176E-05 | None | None | None | None | N | None | 1.3349E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6104E-05 | 9.88034E-04 | 2.08127E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7927 | likely_pathogenic | 0.7699 | pathogenic | 0.194 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/C | 0.9504 | likely_pathogenic | 0.945 | pathogenic | 0.187 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/E | 0.6628 | likely_pathogenic | 0.6994 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| D/F | 0.9666 | likely_pathogenic | 0.9544 | pathogenic | 0.956 | Stabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| D/G | 0.8337 | likely_pathogenic | 0.8177 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/H | 0.7855 | likely_pathogenic | 0.7071 | pathogenic | 0.757 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/I | 0.9419 | likely_pathogenic | 0.936 | pathogenic | 1.346 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/K | 0.9523 | likely_pathogenic | 0.9516 | pathogenic | 0.356 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/L | 0.946 | likely_pathogenic | 0.9413 | pathogenic | 1.346 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| D/M | 0.9766 | likely_pathogenic | 0.9705 | pathogenic | 1.62 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/N | 0.5052 | ambiguous | 0.5351 | ambiguous | -0.516 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/P | 0.9925 | likely_pathogenic | 0.9932 | pathogenic | 0.991 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/Q | 0.9173 | likely_pathogenic | 0.9086 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/R | 0.9598 | likely_pathogenic | 0.9582 | pathogenic | 0.487 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/S | 0.616 | likely_pathogenic | 0.5635 | ambiguous | -0.732 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/T | 0.867 | likely_pathogenic | 0.85 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/V | 0.8496 | likely_pathogenic | 0.8451 | pathogenic | 0.991 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/W | 0.9932 | likely_pathogenic | 0.9913 | pathogenic | 1.138 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/Y | 0.8022 | likely_pathogenic | 0.7423 | pathogenic | 1.272 | Stabilizing | 1.0 | D | 0.868 | deleterious | 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.