Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33982 | 102169;102170;102171 | chr2:178534671;178534670;178534669 | chr2:179399398;179399397;179399396 |
| N2AB | 32341 | 97246;97247;97248 | chr2:178534671;178534670;178534669 | chr2:179399398;179399397;179399396 |
| N2A | 31414 | 94465;94466;94467 | chr2:178534671;178534670;178534669 | chr2:179399398;179399397;179399396 |
| N2B | 24917 | 74974;74975;74976 | chr2:178534671;178534670;178534669 | chr2:179399398;179399397;179399396 |
| Novex-1 | 25042 | 75349;75350;75351 | chr2:178534671;178534670;178534669 | chr2:179399398;179399397;179399396 |
| Novex-2 | 25109 | 75550;75551;75552 | chr2:178534671;178534670;178534669 | chr2:179399398;179399397;179399396 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Y
- RefSeq wild type transcript codon: TAT
- RefSeq wild type template codon: ATA
- Domain: Kinase-1
- Domain position: 170
- Q(SASA): 0.088
- Site annotation: Phosphotyrosine
- 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/C | rs888342815  |
None | None | N | None | 0.204 | 0.17948927462 | gnomAD-3.1.2 | 6.57E-06 | None | None | Phosphotyrosine | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs888342815 |
None | None | N | None | 0.204 | 0.17948927462 | gnomAD-4.0.0 | 6.57047E-06 | None | None | Phosphotyrosine | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/D | rs1289613235 |
-3.741 | None | N | None | 0.322 | 0.504480301252 | gnomAD-2.1.1 | 4.02E-06 | None | None | Phosphotyrosine | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65618E-04 |
| Y/D | rs1289613235 |
-3.741 | None | N | None | 0.322 | 0.504480301252 | gnomAD-4.0.0 | 6.84224E-07 | None | None | Phosphotyrosine | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7343E-04 | 0 | 0 | 0 |
| Y/F | None | None | None | N | None | 0.11 | 0.168933306366 | gnomAD-4.0.0 | 3.18277E-06 | None | None | Phosphotyrosine | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71693E-06 | 0 | 0 |
| Y/H | rs1289613235 |
-2.586 | None | N | None | 0.273 | 0.239305524855 | gnomAD-2.1.1 | 4.02E-06 | None | None | Phosphotyrosine | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| Y/H | rs1289613235 |
-2.586 | None | N | None | 0.273 | 0.239305524855 | gnomAD-4.0.0 | 1.36845E-06 | None | None | Phosphotyrosine | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99486E-07 | 0 | 1.65656E-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 | 0.3987 | ambiguous | 0.596 | pathogenic | -3.446 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/C | 0.1605 | likely_benign | 0.2338 | benign | -1.831 | Destabilizing | None | None | None | None | N | 0.432774254 | Phosphotyrosine | None | N |
| Y/D | 0.5564 | ambiguous | 0.7264 | pathogenic | -3.863 | Highly Destabilizing | None | None | None | None | N | 0.513755268 | Phosphotyrosine | None | N |
| Y/E | 0.7893 | likely_pathogenic | 0.8847 | pathogenic | -3.659 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/F | 0.1288 | likely_benign | 0.1413 | benign | -1.449 | Destabilizing | None | None | None | None | N | 0.457208551 | Phosphotyrosine | None | N |
| Y/G | 0.411 | ambiguous | 0.6109 | pathogenic | -3.83 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/H | 0.3694 | ambiguous | 0.4881 | ambiguous | -2.486 | Highly Destabilizing | None | None | None | None | N | 0.494900148 | Phosphotyrosine | None | N |
| Y/I | 0.5087 | ambiguous | 0.6251 | pathogenic | -2.137 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/K | 0.7856 | likely_pathogenic | 0.8795 | pathogenic | -2.515 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/L | 0.4234 | ambiguous | 0.5115 | ambiguous | -2.137 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/M | 0.6356 | likely_pathogenic | 0.7382 | pathogenic | -1.743 | Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/N | 0.3073 | likely_benign | 0.4785 | ambiguous | -3.313 | Highly Destabilizing | None | None | None | None | N | 0.513755268 | Phosphotyrosine | None | N |
| Y/P | 0.826 | likely_pathogenic | 0.9277 | pathogenic | -2.593 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/Q | 0.6634 | likely_pathogenic | 0.8008 | pathogenic | -3.074 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/R | 0.5594 | ambiguous | 0.697 | pathogenic | -2.245 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/S | 0.1954 | likely_benign | 0.3417 | ambiguous | -3.588 | Highly Destabilizing | None | None | None | None | N | 0.430907385 | Phosphotyrosine | None | N |
| Y/T | 0.4256 | ambiguous | 0.6249 | pathogenic | -3.276 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/V | 0.3492 | ambiguous | 0.47 | ambiguous | -2.593 | Highly Destabilizing | None | None | None | None | None | None | Phosphotyrosine | None | N |
| Y/W | 0.6263 | likely_pathogenic | 0.6743 | pathogenic | -0.737 | Destabilizing | None | None | None | None | None | None | Phosphotyrosine | 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.