Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33845 | 101758;101759;101760 | chr2:178535082;178535081;178535080 | chr2:179399809;179399808;179399807 |
| N2AB | 32204 | 96835;96836;96837 | chr2:178535082;178535081;178535080 | chr2:179399809;179399808;179399807 |
| N2A | 31277 | 94054;94055;94056 | chr2:178535082;178535081;178535080 | chr2:179399809;179399808;179399807 |
| N2B | 24780 | 74563;74564;74565 | chr2:178535082;178535081;178535080 | chr2:179399809;179399808;179399807 |
| Novex-1 | 24905 | 74938;74939;74940 | chr2:178535082;178535081;178535080 | chr2:179399809;179399808;179399807 |
| Novex-2 | 24972 | 75139;75140;75141 | chr2:178535082;178535081;178535080 | chr2:179399809;179399808;179399807 |
| 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: 33
- Q(SASA): 0.1229
- 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 | rs1227515280  |
-2.317 | None | N | None | 0.566 | 0.532119839757 | 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 |
| Y/H | rs1227515280 |
-2.317 | None | N | None | 0.566 | 0.532119839757 | gnomAD-4.0.0 | 6.36468E-06 | None | None | None | None | N | None | 0 | 6.85902E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9316 | likely_pathogenic | 0.9239 | pathogenic | -3.327 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.4503 | ambiguous | 0.4661 | ambiguous | -1.804 | Destabilizing | None | None | None | None | N | 0.486844465 | None | None | N |
| Y/D | 0.9375 | likely_pathogenic | 0.9409 | pathogenic | -3.691 | Highly Destabilizing | None | None | None | None | D | 0.526709575 | None | None | N |
| Y/E | 0.982 | likely_pathogenic | 0.9807 | pathogenic | -3.509 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.0757 | likely_benign | 0.0963 | benign | -1.296 | Destabilizing | None | None | None | None | N | 0.415210866 | None | None | N |
| Y/G | 0.9216 | likely_pathogenic | 0.9146 | pathogenic | -3.698 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.6323 | likely_pathogenic | 0.6847 | pathogenic | -2.3 | Highly Destabilizing | None | None | None | None | N | 0.517820733 | None | None | N |
| Y/I | 0.8523 | likely_pathogenic | 0.8298 | pathogenic | -2.077 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9643 | likely_pathogenic | 0.9634 | pathogenic | -2.358 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.832 | likely_pathogenic | 0.8196 | pathogenic | -2.077 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.893 | likely_pathogenic | 0.8922 | pathogenic | -1.696 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.8095 | likely_pathogenic | 0.8015 | pathogenic | -3.069 | Highly Destabilizing | None | None | None | None | D | 0.53273147 | None | None | N |
| Y/P | 0.9912 | likely_pathogenic | 0.9922 | pathogenic | -2.51 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9569 | likely_pathogenic | 0.9597 | pathogenic | -2.879 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.908 | likely_pathogenic | 0.901 | pathogenic | -1.99 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.8199 | likely_pathogenic | 0.8115 | pathogenic | -3.361 | Highly Destabilizing | None | None | None | None | N | 0.510566687 | None | None | N |
| Y/T | 0.9334 | likely_pathogenic | 0.9276 | pathogenic | -3.078 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.7778 | likely_pathogenic | 0.7586 | pathogenic | -2.51 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.4393 | ambiguous | 0.5509 | ambiguous | -0.678 | 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.