Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33832 | 101719;101720;101721 | chr2:178535121;178535120;178535119 | chr2:179399848;179399847;179399846 |
| N2AB | 32191 | 96796;96797;96798 | chr2:178535121;178535120;178535119 | chr2:179399848;179399847;179399846 |
| N2A | 31264 | 94015;94016;94017 | chr2:178535121;178535120;178535119 | chr2:179399848;179399847;179399846 |
| N2B | 24767 | 74524;74525;74526 | chr2:178535121;178535120;178535119 | chr2:179399848;179399847;179399846 |
| Novex-1 | 24892 | 74899;74900;74901 | chr2:178535121;178535120;178535119 | chr2:179399848;179399847;179399846 |
| Novex-2 | 24959 | 75100;75101;75102 | chr2:178535121;178535120;178535119 | chr2:179399848;179399847;179399846 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 20
- Q(SASA): 0.1603
- Site annotation: ATP binding
- Predicted PPI site: N
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1476820246  |
-2.063 | None | N | None | 0.476 | 0.710283225642 | gnomAD-2.1.1 | 7.14E-06 | None | None | ATP binding | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| I/T | rs1476820246 |
-2.063 | None | N | None | 0.476 | 0.710283225642 | gnomAD-3.1.2 | 1.31E-05 | None | None | ATP binding | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1476820246 |
-2.063 | None | N | None | 0.476 | 0.710283225642 | gnomAD-4.0.0 | 1.1774E-05 | None | None | ATP binding | None | N | None | 2.66937E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44084E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8526 | likely_pathogenic | 0.8072 | pathogenic | -2.074 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/C | 0.9387 | likely_pathogenic | 0.9254 | pathogenic | -1.552 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/D | 0.9787 | likely_pathogenic | 0.9744 | pathogenic | -1.454 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/E | 0.9505 | likely_pathogenic | 0.9391 | pathogenic | -1.398 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/F | 0.5438 | ambiguous | 0.4935 | ambiguous | -1.476 | Destabilizing | None | None | None | None | N | 0.501195055 | ATP binding | None | N |
| I/G | 0.9759 | likely_pathogenic | 0.9686 | pathogenic | -2.453 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/H | 0.9441 | likely_pathogenic | 0.9329 | pathogenic | -1.564 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/K | 0.8996 | likely_pathogenic | 0.8712 | pathogenic | -1.271 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/L | 0.3415 | ambiguous | 0.3011 | benign | -1.069 | Destabilizing | None | None | None | None | N | 0.489727268 | ATP binding | None | N |
| I/M | 0.2927 | likely_benign | 0.267 | benign | -0.965 | Destabilizing | None | None | None | None | N | 0.504523362 | ATP binding | None | N |
| I/N | 0.8411 | likely_pathogenic | 0.8228 | pathogenic | -1.186 | Destabilizing | None | None | None | None | N | 0.480126349 | ATP binding | None | N |
| I/P | 0.9887 | likely_pathogenic | 0.9871 | pathogenic | -1.376 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/Q | 0.9283 | likely_pathogenic | 0.9101 | pathogenic | -1.341 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/R | 0.8544 | likely_pathogenic | 0.8082 | pathogenic | -0.726 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/S | 0.8627 | likely_pathogenic | 0.8446 | pathogenic | -1.951 | Destabilizing | None | None | None | None | N | 0.43529535 | ATP binding | None | N |
| I/T | 0.7003 | likely_pathogenic | 0.7005 | pathogenic | -1.766 | Destabilizing | None | None | None | None | N | 0.437988938 | ATP binding | None | N |
| I/V | 0.1476 | likely_benign | 0.1538 | benign | -1.376 | Destabilizing | None | None | None | None | N | 0.398182543 | ATP binding | None | N |
| I/W | 0.9621 | likely_pathogenic | 0.9589 | pathogenic | -1.519 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| I/Y | 0.8881 | likely_pathogenic | 0.8504 | pathogenic | -1.295 | Destabilizing | None | None | None | None | None | None | ATP binding | 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.