Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34032 | 102319;102320;102321 | chr2:178534521;178534520;178534519 | chr2:179399248;179399247;179399246 |
| N2AB | 32391 | 97396;97397;97398 | chr2:178534521;178534520;178534519 | chr2:179399248;179399247;179399246 |
| N2A | 31464 | 94615;94616;94617 | chr2:178534521;178534520;178534519 | chr2:179399248;179399247;179399246 |
| N2B | 24967 | 75124;75125;75126 | chr2:178534521;178534520;178534519 | chr2:179399248;179399247;179399246 |
| Novex-1 | 25092 | 75499;75500;75501 | chr2:178534521;178534520;178534519 | chr2:179399248;179399247;179399246 |
| Novex-2 | 25159 | 75700;75701;75702 | chr2:178534521;178534520;178534519 | chr2:179399248;179399247;179399246 |
| 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: 220
- Q(SASA): 0.1347
- 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 | rs1160872040  |
None | None | N | None | 0.28 | 0.396044805602 | 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 |
| Y/C | rs1160872040 |
None | None | N | None | 0.28 | 0.396044805602 | gnomAD-4.0.0 | 6.56927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| Y/H | None | None | None | N | None | 0.487 | 0.324161360171 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85824E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9476 | likely_pathogenic | 0.9383 | pathogenic | -1.695 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.7484 | likely_pathogenic | 0.6987 | pathogenic | -1.398 | Destabilizing | None | None | None | None | N | 0.473506881 | None | None | N |
| Y/D | 0.9101 | likely_pathogenic | 0.8904 | pathogenic | -2.557 | Highly Destabilizing | None | None | None | None | N | 0.470037387 | None | None | N |
| Y/E | 0.9747 | likely_pathogenic | 0.969 | pathogenic | -2.362 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.219 | likely_benign | 0.2102 | benign | -0.661 | Destabilizing | None | None | None | None | N | 0.474602234 | None | None | N |
| Y/G | 0.8764 | likely_pathogenic | 0.8563 | pathogenic | -2.047 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.8548 | likely_pathogenic | 0.8276 | pathogenic | -1.365 | Destabilizing | None | None | None | None | N | 0.487977058 | None | None | N |
| Y/I | 0.863 | likely_pathogenic | 0.8459 | pathogenic | -0.55 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9694 | likely_pathogenic | 0.9621 | pathogenic | -1.765 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.8223 | likely_pathogenic | 0.8135 | pathogenic | -0.55 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.8986 | likely_pathogenic | 0.8879 | pathogenic | -0.649 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.7595 | likely_pathogenic | 0.7147 | pathogenic | -2.616 | Highly Destabilizing | None | None | None | None | N | 0.476620753 | None | None | N |
| Y/P | 0.9738 | likely_pathogenic | 0.9678 | pathogenic | -0.941 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9732 | likely_pathogenic | 0.9647 | pathogenic | -2.223 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.9458 | likely_pathogenic | 0.9316 | pathogenic | -2.038 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.8682 | likely_pathogenic | 0.8327 | pathogenic | -2.842 | Highly Destabilizing | None | None | None | None | N | 0.459490776 | None | None | N |
| Y/T | 0.9337 | likely_pathogenic | 0.9238 | pathogenic | -2.52 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.7958 | likely_pathogenic | 0.777 | pathogenic | -0.941 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.7566 | likely_pathogenic | 0.7377 | pathogenic | -0.242 | 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.