Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34082 | 102469;102470;102471 | chr2:178534371;178534370;178534369 | chr2:179399098;179399097;179399096 |
| N2AB | 32441 | 97546;97547;97548 | chr2:178534371;178534370;178534369 | chr2:179399098;179399097;179399096 |
| N2A | 31514 | 94765;94766;94767 | chr2:178534371;178534370;178534369 | chr2:179399098;179399097;179399096 |
| N2B | 25017 | 75274;75275;75276 | chr2:178534371;178534370;178534369 | chr2:179399098;179399097;179399096 |
| Novex-1 | 25142 | 75649;75650;75651 | chr2:178534371;178534370;178534369 | chr2:179399098;179399097;179399096 |
| Novex-2 | 25209 | 75850;75851;75852 | chr2:178534371;178534370;178534369 | chr2:179399098;179399097;179399096 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACT
- RefSeq wild type template codon: TGA
- Domain: Kinase-1
- Domain position: 270
- Q(SASA): 0.5591
- 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/I | None | None | None | N | None | 0.175 | 0.213573922156 | gnomAD-4.0.0 | 1.37101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 0 | 0 | 1.65684E-05 |
| T/N | rs1375940766  |
-0.073 | None | N | None | 0.114 | 0.148003135375 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| T/N | rs1375940766 |
-0.073 | None | N | None | 0.114 | 0.148003135375 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs1375940766 |
-0.073 | None | N | None | 0.114 | 0.148003135375 | gnomAD-4.0.0 | 2.48303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39038E-06 | 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 | 0.125 | likely_benign | 0.1191 | benign | -0.572 | Destabilizing | None | None | None | None | N | 0.427579078 | None | None | N |
| T/C | 0.6077 | likely_pathogenic | 0.6218 | pathogenic | -0.328 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.4929 | ambiguous | 0.4479 | ambiguous | -0.079 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.3824 | ambiguous | 0.3514 | ambiguous | -0.156 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.5244 | ambiguous | 0.4608 | ambiguous | -1.038 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.2611 | likely_benign | 0.256 | benign | -0.709 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.4066 | ambiguous | 0.3739 | ambiguous | -1.051 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.4237 | ambiguous | 0.388 | ambiguous | -0.325 | Destabilizing | None | None | None | None | N | 0.427752436 | None | None | N |
| T/K | 0.2959 | likely_benign | 0.2448 | benign | -0.514 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/L | 0.2046 | likely_benign | 0.1748 | benign | -0.325 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.2136 | likely_benign | 0.2155 | benign | 0.046 | Stabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.1902 | likely_benign | 0.1634 | benign | -0.297 | Destabilizing | None | None | None | None | N | 0.428099153 | None | None | N |
| T/P | 0.2414 | likely_benign | 0.2752 | benign | -0.379 | Destabilizing | None | None | None | None | N | 0.427405719 | None | None | N |
| T/Q | 0.294 | likely_benign | 0.2735 | benign | -0.595 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.2589 | likely_benign | 0.2218 | benign | -0.186 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/S | 0.1592 | likely_benign | 0.1402 | benign | -0.519 | Destabilizing | None | None | None | None | N | 0.427752436 | None | None | N |
| T/V | 0.2754 | likely_benign | 0.2547 | benign | -0.379 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.797 | likely_pathogenic | 0.7981 | pathogenic | -0.983 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.5238 | ambiguous | 0.4797 | ambiguous | -0.73 | 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.