Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7690 | 23293;23294;23295 | chr2:178720951;178720950;178720949 | chr2:179585678;179585677;179585676 |
| N2AB | 7373 | 22342;22343;22344 | chr2:178720951;178720950;178720949 | chr2:179585678;179585677;179585676 |
| N2A | 6446 | 19561;19562;19563 | chr2:178720951;178720950;178720949 | chr2:179585678;179585677;179585676 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs763029699  |
-1.089 | 0.039 | D | 0.477 | 0.151 | 0.315903272564 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| A/S | rs763029699 |
-1.089 | 0.039 | D | 0.477 | 0.151 | 0.315903272564 | 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 |
| A/S | rs763029699 |
-1.089 | 0.039 | D | 0.477 | 0.151 | 0.315903272564 | gnomAD-4.0.0 | 5.00611E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.85181E-06 | 0 | 0 |
| A/T | rs763029699 |
-1.005 | 0.005 | N | 0.361 | 0.147 | 0.352476196916 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 0 | 8.56E-05 | None | 0 | 0 | None | 0 | None | 0 | 4.72E-05 | 0 |
| A/T | rs763029699 |
-1.005 | 0.005 | N | 0.361 | 0.147 | 0.352476196916 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs763029699 |
-1.005 | 0.005 | N | 0.361 | 0.147 | 0.352476196916 | gnomAD-4.0.0 | 1.93972E-05 | None | None | None | None | N | None | 0 | 6.70691E-05 | None | 3.06477E-04 | 0 | None | 0 | 0 | 1.28472E-05 | 2.22445E-05 | 1.61933E-05 |
| A/V | rs773024652 |
-0.136 | 0.003 | N | 0.147 | 0.232 | 0.40146981186 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6458 | likely_pathogenic | 0.7192 | pathogenic | -0.805 | Destabilizing | 0.979 | D | 0.538 | neutral | None | None | None | None | N |
| A/D | 0.3189 | likely_benign | 0.4337 | ambiguous | -0.747 | Destabilizing | 0.177 | N | 0.581 | neutral | N | 0.473992598 | None | None | N |
| A/E | 0.5124 | ambiguous | 0.5841 | pathogenic | -0.831 | Destabilizing | 0.004 | N | 0.248 | neutral | None | None | None | None | N |
| A/F | 0.4917 | ambiguous | 0.5672 | pathogenic | -1.073 | Destabilizing | 0.938 | D | 0.611 | neutral | None | None | None | None | N |
| A/G | 0.2746 | likely_benign | 0.3073 | benign | -0.977 | Destabilizing | 0.04 | N | 0.489 | neutral | N | 0.51657583 | None | None | N |
| A/H | 0.7057 | likely_pathogenic | 0.7746 | pathogenic | -1.03 | Destabilizing | 0.994 | D | 0.561 | neutral | None | None | None | None | N |
| A/I | 0.2771 | likely_benign | 0.3534 | ambiguous | -0.444 | Destabilizing | 0.517 | D | 0.514 | neutral | None | None | None | None | N |
| A/K | 0.7558 | likely_pathogenic | 0.8264 | pathogenic | -0.968 | Destabilizing | 0.681 | D | 0.515 | neutral | None | None | None | None | N |
| A/L | 0.3427 | ambiguous | 0.3813 | ambiguous | -0.444 | Destabilizing | 0.306 | N | 0.497 | neutral | None | None | None | None | N |
| A/M | 0.3203 | likely_benign | 0.3678 | ambiguous | -0.372 | Destabilizing | 0.938 | D | 0.545 | neutral | None | None | None | None | N |
| A/N | 0.383 | ambiguous | 0.4807 | ambiguous | -0.611 | Destabilizing | 0.19 | N | 0.601 | neutral | None | None | None | None | N |
| A/P | 0.9654 | likely_pathogenic | 0.974 | pathogenic | -0.518 | Destabilizing | 0.886 | D | 0.571 | neutral | N | 0.509093865 | None | None | N |
| A/Q | 0.5893 | likely_pathogenic | 0.6522 | pathogenic | -0.836 | Destabilizing | 0.882 | D | 0.573 | neutral | None | None | None | None | N |
| A/R | 0.6767 | likely_pathogenic | 0.7426 | pathogenic | -0.552 | Destabilizing | 0.882 | D | 0.573 | neutral | None | None | None | None | N |
| A/S | 0.1051 | likely_benign | 0.1194 | benign | -0.944 | Destabilizing | 0.039 | N | 0.477 | neutral | D | 0.529019161 | None | None | N |
| A/T | 0.0932 | likely_benign | 0.0984 | benign | -0.934 | Destabilizing | 0.005 | N | 0.361 | neutral | N | 0.503315427 | None | None | N |
| A/V | 0.1295 | likely_benign | 0.1656 | benign | -0.518 | Destabilizing | 0.003 | N | 0.147 | neutral | N | 0.481206572 | None | None | N |
| A/W | 0.9114 | likely_pathogenic | 0.9349 | pathogenic | -1.297 | Destabilizing | 0.994 | D | 0.653 | neutral | None | None | None | None | N |
| A/Y | 0.6751 | likely_pathogenic | 0.7531 | pathogenic | -0.923 | Destabilizing | 0.979 | D | 0.61 | 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.