Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33981 | 102166;102167;102168 | chr2:178534674;178534673;178534672 | chr2:179399401;179399400;179399399 |
| N2AB | 32340 | 97243;97244;97245 | chr2:178534674;178534673;178534672 | chr2:179399401;179399400;179399399 |
| N2A | 31413 | 94462;94463;94464 | chr2:178534674;178534673;178534672 | chr2:179399401;179399400;179399399 |
| N2B | 24916 | 74971;74972;74973 | chr2:178534674;178534673;178534672 | chr2:179399401;179399400;179399399 |
| Novex-1 | 25041 | 75346;75347;75348 | chr2:178534674;178534673;178534672 | chr2:179399401;179399400;179399399 |
| Novex-2 | 25108 | 75547;75548;75549 | chr2:178534674;178534673;178534672 | chr2:179399401;179399400;179399399 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Y
- RefSeq wild type transcript codon: TAC
- RefSeq wild type template codon: ATG
- Domain: Kinase-1
- Domain position: 169
- Q(SASA): 0.0746
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs781686886  |
-2.805 | None | D | None | 0.711 | 0.613916450604 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| Y/H | rs781686886 |
-2.805 | None | D | None | 0.711 | 0.613916450604 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.06782E-04 | 0 |
| Y/H | rs781686886 |
-2.805 | None | D | None | 0.711 | 0.613916450604 | gnomAD-4.0.0 | 9.9151E-06 | None | None | None | None | N | None | 4.00491E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08566E-06 | 6.58704E-05 | 1.60108E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.929 | likely_pathogenic | 0.9456 | pathogenic | -3.664 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.727 | likely_pathogenic | 0.7611 | pathogenic | -1.855 | Destabilizing | None | None | None | None | D | 0.534670539 | None | None | N |
| Y/D | 0.877 | likely_pathogenic | 0.8957 | pathogenic | -3.791 | Highly Destabilizing | None | None | None | None | D | 0.557801224 | None | None | N |
| Y/E | 0.9722 | likely_pathogenic | 0.9764 | pathogenic | -3.578 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.171 | likely_benign | 0.153 | benign | -1.579 | Destabilizing | None | None | None | None | D | 0.529731237 | None | None | N |
| Y/G | 0.8598 | likely_pathogenic | 0.886 | pathogenic | -4.056 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.8253 | likely_pathogenic | 0.8482 | pathogenic | -2.728 | Highly Destabilizing | None | None | None | None | D | 0.545519866 | None | None | N |
| Y/I | 0.8232 | likely_pathogenic | 0.837 | pathogenic | -2.324 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9665 | likely_pathogenic | 0.9724 | pathogenic | -2.451 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.8025 | likely_pathogenic | 0.8333 | pathogenic | -2.324 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.8822 | likely_pathogenic | 0.8964 | pathogenic | -1.953 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.6681 | likely_pathogenic | 0.7025 | pathogenic | -3.199 | Highly Destabilizing | None | None | None | None | D | 0.557547734 | None | None | N |
| Y/P | 0.9803 | likely_pathogenic | 0.9858 | pathogenic | -2.791 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9658 | likely_pathogenic | 0.9723 | pathogenic | -2.954 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.9445 | likely_pathogenic | 0.9514 | pathogenic | -2.184 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.8059 | likely_pathogenic | 0.8375 | pathogenic | -3.51 | Highly Destabilizing | None | None | None | None | D | 0.539443479 | None | None | N |
| Y/T | 0.9064 | likely_pathogenic | 0.9253 | pathogenic | -3.183 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.7733 | likely_pathogenic | 0.8098 | pathogenic | -2.791 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.7783 | likely_pathogenic | 0.7572 | pathogenic | -0.781 | 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.