Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33890 | 101893;101894;101895 | chr2:178534947;178534946;178534945 | chr2:179399674;179399673;179399672 |
| N2AB | 32249 | 96970;96971;96972 | chr2:178534947;178534946;178534945 | chr2:179399674;179399673;179399672 |
| N2A | 31322 | 94189;94190;94191 | chr2:178534947;178534946;178534945 | chr2:179399674;179399673;179399672 |
| N2B | 24825 | 74698;74699;74700 | chr2:178534947;178534946;178534945 | chr2:179399674;179399673;179399672 |
| Novex-1 | 24950 | 75073;75074;75075 | chr2:178534947;178534946;178534945 | chr2:179399674;179399673;179399672 |
| Novex-2 | 25017 | 75274;75275;75276 | chr2:178534947;178534946;178534945 | chr2:179399674;179399673;179399672 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
- Domain: Kinase-1
- Domain position: 78
- Q(SASA): 0.1104
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | None | N | None | 0.27 | 0.525258673147 | gnomAD-4.0.0 | 6.84854E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99514E-07 | 0 | 0 |
| M/L | rs754298968  |
-0.545 | None | N | None | 0.177 | 0.348764635752 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.93949E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/L | rs754298968 |
-0.545 | None | N | None | 0.177 | 0.348764635752 | gnomAD-4.0.0 | 6.37696E-06 | None | None | None | None | N | None | 2.26372E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.8397 | likely_pathogenic | 0.8501 | pathogenic | -2.286 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.8974 | likely_pathogenic | 0.8977 | pathogenic | -2.374 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.9904 | likely_pathogenic | 0.9897 | pathogenic | -2.083 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.9321 | likely_pathogenic | 0.9325 | pathogenic | -1.82 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.7635 | likely_pathogenic | 0.7395 | pathogenic | -0.704 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.9554 | likely_pathogenic | 0.9549 | pathogenic | -2.805 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.9545 | likely_pathogenic | 0.9517 | pathogenic | -2.425 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.7621 | likely_pathogenic | 0.8126 | pathogenic | -0.781 | Destabilizing | None | None | None | None | N | 0.427022583 | None | None | N |
| M/K | 0.8486 | likely_pathogenic | 0.8671 | pathogenic | -1.512 | Destabilizing | None | None | None | None | N | 0.493467917 | None | None | N |
| M/L | 0.198 | likely_benign | 0.2642 | benign | -0.781 | Destabilizing | None | None | None | None | N | 0.37495618 | None | None | N |
| M/N | 0.9363 | likely_pathogenic | 0.9405 | pathogenic | -1.971 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.9936 | likely_pathogenic | 0.9937 | pathogenic | -1.266 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.8022 | likely_pathogenic | 0.798 | pathogenic | -1.593 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.8816 | likely_pathogenic | 0.8883 | pathogenic | -1.661 | Destabilizing | None | None | None | None | N | 0.493467917 | None | None | N |
| M/S | 0.88 | likely_pathogenic | 0.8817 | pathogenic | -2.547 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.7118 | likely_pathogenic | 0.739 | pathogenic | -2.147 | Highly Destabilizing | None | None | None | None | N | 0.492707449 | None | None | N |
| M/V | 0.2959 | likely_benign | 0.3453 | ambiguous | -1.266 | Destabilizing | None | None | None | None | N | 0.470488146 | None | None | N |
| M/W | 0.9633 | likely_pathogenic | 0.9648 | pathogenic | -1.055 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.9459 | likely_pathogenic | 0.9454 | pathogenic | -1.038 | Destabilizing | None | None | None | None | 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.