Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34106 | 102541;102542;102543 | chr2:178534299;178534298;178534297 | chr2:179399026;179399025;179399024 |
| N2AB | 32465 | 97618;97619;97620 | chr2:178534299;178534298;178534297 | chr2:179399026;179399025;179399024 |
| N2A | 31538 | 94837;94838;94839 | chr2:178534299;178534298;178534297 | chr2:179399026;179399025;179399024 |
| N2B | 25041 | 75346;75347;75348 | chr2:178534299;178534298;178534297 | chr2:179399026;179399025;179399024 |
| Novex-1 | 25166 | 75721;75722;75723 | chr2:178534299;178534298;178534297 | chr2:179399026;179399025;179399024 |
| Novex-2 | 25233 | 75922;75923;75924 | chr2:178534299;178534298;178534297 | chr2:179399026;179399025;179399024 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTG
- RefSeq wild type template codon: CAC
- Domain: Kinase-1
- Domain position: 294
- Q(SASA): 0.1604
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs780748204  |
-0.728 | None | N | None | 0.21 | 0.632568129805 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7456 | likely_pathogenic | 0.6815 | pathogenic | -1.518 | Destabilizing | None | None | None | None | N | 0.457865565 | None | None | N |
| V/C | 0.9384 | likely_pathogenic | 0.9241 | pathogenic | -1.214 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9726 | likely_pathogenic | 0.9498 | pathogenic | -0.92 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.9392 | likely_pathogenic | 0.8889 | pathogenic | -0.913 | Destabilizing | None | None | None | None | N | 0.458905715 | None | None | N |
| V/F | 0.6795 | likely_pathogenic | 0.571 | pathogenic | -1.161 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.8406 | likely_pathogenic | 0.7955 | pathogenic | -1.845 | Destabilizing | None | None | None | None | N | 0.459079074 | None | None | N |
| V/H | 0.978 | likely_pathogenic | 0.9576 | pathogenic | -1.221 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1405 | likely_benign | 0.1248 | benign | -0.724 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.9456 | likely_pathogenic | 0.8906 | pathogenic | -1.173 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6083 | likely_pathogenic | 0.5033 | ambiguous | -0.724 | Destabilizing | None | None | None | None | N | 0.45630534 | None | None | N |
| V/M | 0.6299 | likely_pathogenic | 0.5614 | ambiguous | -0.655 | Destabilizing | None | None | None | None | N | 0.458558999 | None | None | N |
| V/N | 0.9281 | likely_pathogenic | 0.8846 | pathogenic | -1.006 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9638 | likely_pathogenic | 0.9415 | pathogenic | -0.953 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9311 | likely_pathogenic | 0.8901 | pathogenic | -1.153 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9139 | likely_pathogenic | 0.8342 | pathogenic | -0.664 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.8445 | likely_pathogenic | 0.7685 | pathogenic | -1.633 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.7243 | likely_pathogenic | 0.6406 | pathogenic | -1.5 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9916 | likely_pathogenic | 0.9857 | pathogenic | -1.271 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9573 | likely_pathogenic | 0.927 | pathogenic | -0.992 | 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.