Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8748 | 26467;26468;26469 | chr2:178714532;178714531;178714530 | chr2:179579259;179579258;179579257 |
| N2AB | 8431 | 25516;25517;25518 | chr2:178714532;178714531;178714530 | chr2:179579259;179579258;179579257 |
| N2A | 7504 | 22735;22736;22737 | chr2:178714532;178714531;178714530 | chr2:179579259;179579258;179579257 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1362528703  |
-1.127 | 0.004 | N | 0.581 | 0.154 | 0.446913017954 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 1.41283E-04 |
| V/A | rs1362528703 |
-1.127 | 0.004 | N | 0.581 | 0.154 | 0.446913017954 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1362528703 |
-1.127 | 0.004 | N | 0.581 | 0.154 | 0.446913017954 | gnomAD-4.0.0 | 3.10035E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39165E-06 | 0 | 1.6022E-05 |
| V/I | rs1456259621 |
-0.303 | None | N | 0.254 | 0.102 | 0.295623431141 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/I | rs1456259621 |
-0.303 | None | N | 0.254 | 0.102 | 0.295623431141 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1456259621 |
-0.303 | None | N | 0.254 | 0.102 | 0.295623431141 | gnomAD-4.0.0 | 2.56537E-06 | None | None | None | None | N | None | 1.69268E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39538E-06 | 0 | 0 |
| V/L | None | None | None | N | 0.271 | 0.109 | 0.192905019026 | gnomAD-4.0.0 | 1.5936E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86159E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0931 | likely_benign | 0.104 | benign | -0.742 | Destabilizing | 0.004 | N | 0.581 | neutral | N | 0.501195055 | None | None | N |
| V/C | 0.5688 | likely_pathogenic | 0.635 | pathogenic | -0.749 | Destabilizing | 0.685 | D | 0.577 | neutral | None | None | None | None | N |
| V/D | 0.183 | likely_benign | 0.198 | benign | -0.196 | Destabilizing | 0.148 | N | 0.637 | neutral | D | 0.526400144 | None | None | N |
| V/E | 0.1403 | likely_benign | 0.1467 | benign | -0.255 | Destabilizing | 0.036 | N | 0.626 | neutral | None | None | None | None | N |
| V/F | 0.098 | likely_benign | 0.1139 | benign | -0.613 | Destabilizing | 0.116 | N | 0.626 | neutral | N | 0.483819906 | None | None | N |
| V/G | 0.1591 | likely_benign | 0.1785 | benign | -0.953 | Destabilizing | 0.19 | N | 0.641 | neutral | N | 0.490541402 | None | None | N |
| V/H | 0.2974 | likely_benign | 0.3458 | ambiguous | -0.34 | Destabilizing | 0.743 | D | 0.611 | neutral | None | None | None | None | N |
| V/I | 0.063 | likely_benign | 0.067 | benign | -0.311 | Destabilizing | None | N | 0.254 | neutral | N | 0.502235205 | None | None | N |
| V/K | 0.1727 | likely_benign | 0.1967 | benign | -0.633 | Destabilizing | 0.075 | N | 0.627 | neutral | None | None | None | None | N |
| V/L | 0.0906 | likely_benign | 0.1001 | benign | -0.311 | Destabilizing | None | N | 0.271 | neutral | N | 0.441013388 | None | None | N |
| V/M | 0.0809 | likely_benign | 0.0871 | benign | -0.414 | Destabilizing | 0.11 | N | 0.641 | neutral | None | None | None | None | N |
| V/N | 0.1336 | likely_benign | 0.1503 | benign | -0.465 | Destabilizing | 0.012 | N | 0.651 | neutral | None | None | None | None | N |
| V/P | 0.2414 | likely_benign | 0.2749 | benign | -0.418 | Destabilizing | 0.024 | N | 0.641 | neutral | None | None | None | None | N |
| V/Q | 0.1759 | likely_benign | 0.1966 | benign | -0.638 | Destabilizing | 0.105 | N | 0.619 | neutral | None | None | None | None | N |
| V/R | 0.1442 | likely_benign | 0.1697 | benign | -0.128 | Destabilizing | 0.26 | N | 0.652 | neutral | None | None | None | None | N |
| V/S | 0.1184 | likely_benign | 0.1289 | benign | -0.943 | Destabilizing | 0.013 | N | 0.606 | neutral | None | None | None | None | N |
| V/T | 0.0922 | likely_benign | 0.0993 | benign | -0.891 | Destabilizing | None | N | 0.411 | neutral | None | None | None | None | N |
| V/W | 0.503 | ambiguous | 0.5879 | pathogenic | -0.712 | Destabilizing | 0.915 | D | 0.64 | neutral | None | None | None | None | N |
| V/Y | 0.3003 | likely_benign | 0.3428 | ambiguous | -0.424 | Destabilizing | 0.26 | N | 0.64 | 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.