Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22702 | 68329;68330;68331 | chr2:178578926;178578925;178578924 | chr2:179443653;179443652;179443651 |
| N2AB | 21061 | 63406;63407;63408 | chr2:178578926;178578925;178578924 | chr2:179443653;179443652;179443651 |
| N2A | 20134 | 60625;60626;60627 | chr2:178578926;178578925;178578924 | chr2:179443653;179443652;179443651 |
| N2B | 13637 | 41134;41135;41136 | chr2:178578926;178578925;178578924 | chr2:179443653;179443652;179443651 |
| Novex-1 | 13762 | 41509;41510;41511 | chr2:178578926;178578925;178578924 | chr2:179443653;179443652;179443651 |
| Novex-2 | 13829 | 41710;41711;41712 | chr2:178578926;178578925;178578924 | chr2:179443653;179443652;179443651 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | None | N | 0.193 | 0.079 | 0.137902524267 | gnomAD-4.0.0 | 1.59221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-06 | 0 | 0 |
| T/I | rs1404079334  |
0.387 | 0.317 | N | 0.509 | 0.145 | 0.223847106136 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1404079334 |
0.387 | 0.317 | N | 0.509 | 0.145 | 0.223847106136 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs574172442 |
-0.248 | 0.317 | N | 0.507 | 0.305 | 0.211220785272 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30736E-04 | None | 0 | 0 | 0 |
| T/P | rs574172442 |
-0.248 | 0.317 | N | 0.507 | 0.305 | 0.211220785272 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07641E-04 | 0 |
| T/P | rs574172442 |
-0.248 | 0.317 | N | 0.507 | 0.305 | 0.211220785272 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| T/P | rs574172442 |
-0.248 | 0.317 | N | 0.507 | 0.305 | 0.211220785272 | gnomAD-4.0.0 | 1.02542E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.07239E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0826 | likely_benign | 0.0759 | benign | -0.769 | Destabilizing | None | N | 0.193 | neutral | N | 0.458222564 | None | None | N |
| T/C | 0.3217 | likely_benign | 0.2689 | benign | -0.433 | Destabilizing | 0.824 | D | 0.52 | neutral | None | None | None | None | N |
| T/D | 0.4679 | ambiguous | 0.4258 | ambiguous | -0.373 | Destabilizing | 0.081 | N | 0.44 | neutral | None | None | None | None | N |
| T/E | 0.4081 | ambiguous | 0.3825 | ambiguous | -0.254 | Destabilizing | 0.081 | N | 0.436 | neutral | None | None | None | None | N |
| T/F | 0.2671 | likely_benign | 0.2245 | benign | -0.637 | Destabilizing | 0.555 | D | 0.584 | neutral | None | None | None | None | N |
| T/G | 0.2384 | likely_benign | 0.194 | benign | -1.122 | Destabilizing | 0.035 | N | 0.447 | neutral | None | None | None | None | N |
| T/H | 0.2897 | likely_benign | 0.2425 | benign | -1.25 | Destabilizing | 0.555 | D | 0.581 | neutral | None | None | None | None | N |
| T/I | 0.1819 | likely_benign | 0.1651 | benign | 0.116 | Stabilizing | 0.317 | N | 0.509 | neutral | N | 0.471114503 | None | None | N |
| T/K | 0.3774 | ambiguous | 0.347 | ambiguous | -0.391 | Destabilizing | 0.081 | N | 0.439 | neutral | None | None | None | None | N |
| T/L | 0.1291 | likely_benign | 0.1139 | benign | 0.116 | Stabilizing | 0.081 | N | 0.431 | neutral | None | None | None | None | N |
| T/M | 0.0967 | likely_benign | 0.0907 | benign | 0.045 | Stabilizing | 0.791 | D | 0.529 | neutral | None | None | None | None | N |
| T/N | 0.1211 | likely_benign | 0.1112 | benign | -0.749 | Destabilizing | 0.002 | N | 0.363 | neutral | N | 0.445466697 | None | None | N |
| T/P | 0.6763 | likely_pathogenic | 0.6164 | pathogenic | -0.146 | Destabilizing | 0.317 | N | 0.507 | neutral | N | 0.489526906 | None | None | N |
| T/Q | 0.2798 | likely_benign | 0.2498 | benign | -0.635 | Destabilizing | 0.38 | N | 0.531 | neutral | None | None | None | None | N |
| T/R | 0.3162 | likely_benign | 0.285 | benign | -0.428 | Destabilizing | 0.38 | N | 0.508 | neutral | None | None | None | None | N |
| T/S | 0.0858 | likely_benign | 0.0763 | benign | -1.027 | Destabilizing | None | N | 0.188 | neutral | N | 0.37654533 | None | None | N |
| T/V | 0.1355 | likely_benign | 0.1258 | benign | -0.146 | Destabilizing | 0.081 | N | 0.393 | neutral | None | None | None | None | N |
| T/W | 0.6612 | likely_pathogenic | 0.5977 | pathogenic | -0.736 | Destabilizing | 0.935 | D | 0.617 | neutral | None | None | None | None | N |
| T/Y | 0.3079 | likely_benign | 0.2581 | benign | -0.379 | Destabilizing | 0.555 | D | 0.589 | 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.