Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33996 | 102211;102212;102213 | chr2:178534629;178534628;178534627 | chr2:179399356;179399355;179399354 |
| N2AB | 32355 | 97288;97289;97290 | chr2:178534629;178534628;178534627 | chr2:179399356;179399355;179399354 |
| N2A | 31428 | 94507;94508;94509 | chr2:178534629;178534628;178534627 | chr2:179399356;179399355;179399354 |
| N2B | 24931 | 75016;75017;75018 | chr2:178534629;178534628;178534627 | chr2:179399356;179399355;179399354 |
| Novex-1 | 25056 | 75391;75392;75393 | chr2:178534629;178534628;178534627 | chr2:179399356;179399355;179399354 |
| Novex-2 | 25123 | 75592;75593;75594 | chr2:178534629;178534628;178534627 | chr2:179399356;179399355;179399354 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: T
- RefSeq wild type transcript codon: ACA
- RefSeq wild type template codon: TGT
- Domain: Kinase-1
- Domain position: 184
- Q(SASA): 0.0999
- 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 | 0.439 | 0.283371740733 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85925E-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 | 0.4314 | ambiguous | 0.4197 | ambiguous | -1.654 | Destabilizing | None | None | None | None | N | 0.417650086 | None | None | N |
| T/C | 0.9165 | likely_pathogenic | 0.898 | pathogenic | -1.613 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/D | 0.9496 | likely_pathogenic | 0.9276 | pathogenic | -2.673 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| T/E | 0.9242 | likely_pathogenic | 0.9031 | pathogenic | -2.458 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| T/F | 0.9497 | likely_pathogenic | 0.9287 | pathogenic | -1.279 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/G | 0.7697 | likely_pathogenic | 0.7449 | pathogenic | -1.979 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/H | 0.9274 | likely_pathogenic | 0.9056 | pathogenic | -1.907 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/I | 0.8623 | likely_pathogenic | 0.8296 | pathogenic | -0.794 | Destabilizing | None | None | None | None | N | 0.460075498 | None | None | N |
| T/K | 0.8943 | likely_pathogenic | 0.8572 | pathogenic | -1.047 | Destabilizing | None | None | None | None | N | 0.483622192 | None | None | N |
| T/L | 0.6629 | likely_pathogenic | 0.6465 | pathogenic | -0.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/M | 0.5293 | ambiguous | 0.5037 | ambiguous | -1.034 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/N | 0.7575 | likely_pathogenic | 0.7107 | pathogenic | -1.83 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/P | 0.7516 | likely_pathogenic | 0.7599 | pathogenic | -1.057 | Destabilizing | None | None | None | None | N | 0.472265886 | None | None | N |
| T/Q | 0.8893 | likely_pathogenic | 0.8634 | pathogenic | -1.572 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/R | 0.8721 | likely_pathogenic | 0.8275 | pathogenic | -1.183 | Destabilizing | None | None | None | None | N | 0.472012397 | None | None | N |
| T/S | 0.4747 | ambiguous | 0.4428 | ambiguous | -1.908 | Destabilizing | None | None | None | None | N | 0.445737977 | None | None | N |
| T/V | 0.6759 | likely_pathogenic | 0.6409 | pathogenic | -1.057 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/W | 0.9858 | likely_pathogenic | 0.978 | pathogenic | -1.564 | Destabilizing | None | None | None | None | None | None | None | None | N |
| T/Y | 0.9611 | likely_pathogenic | 0.9461 | pathogenic | -1.197 | 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.