Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33994 | 102205;102206;102207 | chr2:178534635;178534634;178534633 | chr2:179399362;179399361;179399360 |
| N2AB | 32353 | 97282;97283;97284 | chr2:178534635;178534634;178534633 | chr2:179399362;179399361;179399360 |
| N2A | 31426 | 94501;94502;94503 | chr2:178534635;178534634;178534633 | chr2:179399362;179399361;179399360 |
| N2B | 24929 | 75010;75011;75012 | chr2:178534635;178534634;178534633 | chr2:179399362;179399361;179399360 |
| Novex-1 | 25054 | 75385;75386;75387 | chr2:178534635;178534634;178534633 | chr2:179399362;179399361;179399360 |
| Novex-2 | 25121 | 75586;75587;75588 | chr2:178534635;178534634;178534633 | chr2:179399362;179399361;179399360 |
| 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: 182
- Q(SASA): 0.1461
- 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/K | rs1419643205  |
-0.562 | None | N | None | 0.408 | 0.417081434665 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/K | rs1419643205 |
-0.562 | None | N | None | 0.408 | 0.417081434665 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| T/K | rs1419643205 |
-0.562 | None | N | None | 0.408 | 0.417081434665 | gnomAD-4.0.0 | 8.96875E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.38061E-05 | 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 | 0.1811 | likely_benign | 0.1815 | benign | -1.036 | Destabilizing | None | None | None | None | N | 0.453979898 | None | None | N |
| T/C | 0.7582 | likely_pathogenic | 0.7315 | pathogenic | -0.711 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.7997 | likely_pathogenic | 0.7719 | pathogenic | -1.009 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.709 | likely_pathogenic | 0.6853 | pathogenic | -0.967 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.6685 | likely_pathogenic | 0.6341 | pathogenic | -1.042 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.5484 | ambiguous | 0.5288 | ambiguous | -1.327 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.6363 | likely_pathogenic | 0.614 | pathogenic | -1.558 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.5838 | likely_pathogenic | 0.5611 | ambiguous | -0.333 | Destabilizing | None | None | None | None | N | 0.49378908 | None | None | N |
| T/K | 0.5755 | likely_pathogenic | 0.5461 | ambiguous | -0.84 | Destabilizing | None | None | None | None | N | 0.427870732 | None | None | N |
| T/L | 0.3294 | likely_benign | 0.3233 | benign | -0.333 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.2661 | likely_benign | 0.2728 | benign | 0.081 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.3876 | ambiguous | 0.3677 | ambiguous | -1.0 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.2893 | likely_benign | 0.3105 | benign | -0.536 | Destabilizing | None | None | None | None | N | 0.392547437 | None | None | N |
| T/Q | 0.5931 | likely_pathogenic | 0.5824 | pathogenic | -1.182 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.5043 | ambiguous | 0.4879 | ambiguous | -0.592 | Destabilizing | None | None | None | None | N | 0.451016951 | None | None | N |
| T/S | 0.2422 | likely_benign | 0.2165 | benign | -1.244 | Destabilizing | None | None | None | None | N | 0.450670234 | None | None | N |
| T/V | 0.3839 | ambiguous | 0.3755 | ambiguous | -0.536 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.915 | likely_pathogenic | 0.9055 | pathogenic | -0.985 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.684 | likely_pathogenic | 0.6628 | pathogenic | -0.725 | 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.