Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4831 | 14716;14717;14718 | chr2:178735955;178735954;178735953 | chr2:179600682;179600681;179600680 |
| N2AB | 4514 | 13765;13766;13767 | chr2:178735955;178735954;178735953 | chr2:179600682;179600681;179600680 |
| N2A | 3587 | 10984;10985;10986 | chr2:178735955;178735954;178735953 | chr2:179600682;179600681;179600680 |
| 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/G | rs1257773327  |
-0.528 | 1.0 | N | 0.667 | 0.592 | 0.17258766438 | 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 |
| D/G | rs1257773327 |
-0.528 | 1.0 | N | 0.667 | 0.592 | 0.17258766438 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77393E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.615 | 0.311 | 0.143124449307 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88274E-05 | 0 | 0 | 0 | 0 |
| D/Y | rs768490595 |
-0.026 | 1.0 | D | 0.639 | 0.492 | 0.633345530651 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 8.87E-06 | 0 |
| D/Y | rs768490595 |
-0.026 | 1.0 | D | 0.639 | 0.492 | 0.633345530651 | 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 |
| D/Y | rs768490595 |
-0.026 | 1.0 | D | 0.639 | 0.492 | 0.633345530651 | gnomAD-4.0.0 | 1.40915E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.25518E-04 | 0 | 4.78574E-06 | 0 | 2.84414E-05 |
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 | 0.3703 | ambiguous | 0.274 | benign | -0.508 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.553871272 | None | None | N |
| D/C | 0.8103 | likely_pathogenic | 0.7347 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/E | 0.3936 | ambiguous | 0.2865 | benign | -0.348 | Destabilizing | 1.0 | D | 0.415 | neutral | N | 0.463086643 | None | None | N |
| D/F | 0.839 | likely_pathogenic | 0.7461 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| D/G | 0.2041 | likely_benign | 0.1495 | benign | -0.747 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.494655323 | None | None | N |
| D/H | 0.5875 | likely_pathogenic | 0.4619 | ambiguous | -0.05 | Destabilizing | 1.0 | D | 0.607 | neutral | D | 0.585398035 | None | None | N |
| D/I | 0.7861 | likely_pathogenic | 0.6709 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| D/K | 0.7108 | likely_pathogenic | 0.6145 | pathogenic | 0.143 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/L | 0.739 | likely_pathogenic | 0.6337 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| D/M | 0.8843 | likely_pathogenic | 0.8102 | pathogenic | 0.261 | Stabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| D/N | 0.1187 | likely_benign | 0.103 | benign | -0.326 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.34939302 | None | None | N |
| D/P | 0.9626 | likely_pathogenic | 0.9406 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/Q | 0.6715 | likely_pathogenic | 0.5423 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| D/R | 0.6846 | likely_pathogenic | 0.583 | pathogenic | 0.394 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/S | 0.2577 | likely_benign | 0.1881 | benign | -0.441 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| D/T | 0.6426 | likely_pathogenic | 0.5267 | ambiguous | -0.242 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/V | 0.5606 | ambiguous | 0.4399 | ambiguous | -0.086 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | D | 0.568301415 | None | None | N |
| D/W | 0.9422 | likely_pathogenic | 0.8997 | pathogenic | 0.02 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/Y | 0.3427 | ambiguous | 0.269 | benign | 0.049 | Stabilizing | 1.0 | D | 0.639 | neutral | D | 0.647281027 | 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.