Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34012 | 102259;102260;102261 | chr2:178534581;178534580;178534579 | chr2:179399308;179399307;179399306 |
| N2AB | 32371 | 97336;97337;97338 | chr2:178534581;178534580;178534579 | chr2:179399308;179399307;179399306 |
| N2A | 31444 | 94555;94556;94557 | chr2:178534581;178534580;178534579 | chr2:179399308;179399307;179399306 |
| N2B | 24947 | 75064;75065;75066 | chr2:178534581;178534580;178534579 | chr2:179399308;179399307;179399306 |
| Novex-1 | 25072 | 75439;75440;75441 | chr2:178534581;178534580;178534579 | chr2:179399308;179399307;179399306 |
| Novex-2 | 25139 | 75640;75641;75642 | chr2:178534581;178534580;178534579 | chr2:179399308;179399307;179399306 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATC
- RefSeq wild type template codon: TAG
- Domain: Kinase-1
- Domain position: 200
- Q(SASA): 0.1425
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/S | None | None | None | N | None | 0.209 | 0.629443713816 | gnomAD-4.0.0 | 4.10515E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39672E-06 | 0 | 0 |
| I/T | None | None | None | N | None | 0.096 | 0.511275995344 | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 1.15942E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5894 | likely_pathogenic | 0.5375 | ambiguous | -2.272 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.7634 | likely_pathogenic | 0.7538 | pathogenic | -1.127 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.8422 | likely_pathogenic | 0.8086 | pathogenic | -2.574 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.6783 | likely_pathogenic | 0.6507 | pathogenic | -2.367 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.3301 | likely_benign | 0.3159 | benign | -1.434 | Destabilizing | None | None | None | None | N | 0.440511955 | None | None | N |
| I/G | 0.8592 | likely_pathogenic | 0.8375 | pathogenic | -2.772 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.7343 | likely_pathogenic | 0.7143 | pathogenic | -2.365 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.5455 | ambiguous | 0.5094 | ambiguous | -1.577 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1615 | likely_benign | 0.1451 | benign | -0.826 | Destabilizing | None | None | None | None | N | 0.451651669 | None | None | N |
| I/M | 0.1539 | likely_benign | 0.1527 | benign | -0.517 | Destabilizing | None | None | None | None | N | 0.480993141 | None | None | N |
| I/N | 0.4179 | ambiguous | 0.3993 | ambiguous | -1.839 | Destabilizing | None | None | None | None | N | 0.462271307 | None | None | N |
| I/P | 0.9585 | likely_pathogenic | 0.9577 | pathogenic | -1.29 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.5617 | ambiguous | 0.5612 | ambiguous | -1.727 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.4585 | ambiguous | 0.4427 | ambiguous | -1.332 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.5167 | ambiguous | 0.5025 | ambiguous | -2.453 | Highly Destabilizing | None | None | None | None | N | 0.451419596 | None | None | N |
| I/T | 0.4341 | ambiguous | 0.4193 | ambiguous | -2.119 | Highly Destabilizing | None | None | None | None | N | 0.447995288 | None | None | N |
| I/V | 0.1513 | likely_benign | 0.1475 | benign | -1.29 | Destabilizing | None | None | None | None | N | 0.427140013 | None | None | N |
| I/W | 0.871 | likely_pathogenic | 0.8778 | pathogenic | -1.913 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.6256 | likely_pathogenic | 0.5997 | pathogenic | -1.573 | 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.