Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34087 | 102484;102485;102486 | chr2:178534356;178534355;178534354 | chr2:179399083;179399082;179399081 |
| N2AB | 32446 | 97561;97562;97563 | chr2:178534356;178534355;178534354 | chr2:179399083;179399082;179399081 |
| N2A | 31519 | 94780;94781;94782 | chr2:178534356;178534355;178534354 | chr2:179399083;179399082;179399081 |
| N2B | 25022 | 75289;75290;75291 | chr2:178534356;178534355;178534354 | chr2:179399083;179399082;179399081 |
| Novex-1 | 25147 | 75664;75665;75666 | chr2:178534356;178534355;178534354 | chr2:179399083;179399082;179399081 |
| Novex-2 | 25214 | 75865;75866;75867 | chr2:178534356;178534355;178534354 | chr2:179399083;179399082;179399081 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACA
- RefSeq wild type template codon: TGT
- Domain: Kinase-1
- Domain position: 275
- Q(SASA): 0.2202
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | None | N | None | 0.204 | 0.12205267543 | gnomAD-4.0.0 | 1.59652E-06 | None | None | None | None | N | None | 5.65611E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | None | N | None | 0.19 | 0.1749357433 | gnomAD-4.0.0 | 6.85123E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 0 | 0 |
| T/K | None | None | None | N | None | 0.256 | 0.195762928549 | gnomAD-4.0.0 | 6.85123E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.267 | likely_benign | 0.336 | benign | -0.812 | Destabilizing | None | None | None | None | N | 0.438796149 | None | None | N |
| T/C | 0.7371 | likely_pathogenic | 0.8098 | pathogenic | -0.525 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.8697 | likely_pathogenic | 0.9128 | pathogenic | -0.428 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.8002 | likely_pathogenic | 0.8642 | pathogenic | -0.333 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.6937 | likely_pathogenic | 0.7784 | pathogenic | -0.592 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.5711 | likely_pathogenic | 0.707 | pathogenic | -1.169 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.6705 | likely_pathogenic | 0.7791 | pathogenic | -1.386 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.4667 | ambiguous | 0.5431 | ambiguous | 0.076 | Stabilizing | None | None | None | None | N | 0.439142866 | None | None | N |
| T/K | 0.6881 | likely_pathogenic | 0.7598 | pathogenic | -0.718 | Destabilizing | None | None | None | None | N | 0.439316224 | None | None | N |
| T/L | 0.3162 | likely_benign | 0.3744 | ambiguous | 0.076 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.2539 | likely_benign | 0.3237 | benign | 0.138 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.3826 | ambiguous | 0.503 | ambiguous | -0.952 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.4911 | ambiguous | 0.7078 | pathogenic | -0.186 | Destabilizing | None | None | None | None | N | 0.438449432 | None | None | N |
| T/Q | 0.6578 | likely_pathogenic | 0.7579 | pathogenic | -0.877 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.6657 | likely_pathogenic | 0.739 | pathogenic | -0.723 | Destabilizing | None | None | None | None | N | 0.439316224 | None | None | N |
| T/S | 0.372 | ambiguous | 0.4494 | ambiguous | -1.218 | Destabilizing | None | None | None | None | N | 0.438622791 | None | None | N |
| T/V | 0.3648 | ambiguous | 0.4115 | ambiguous | -0.186 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.9213 | likely_pathogenic | 0.9575 | pathogenic | -0.645 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.6946 | likely_pathogenic | 0.7957 | pathogenic | -0.353 | 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.