Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34015 | 102268;102269;102270 | chr2:178534572;178534571;178534570 | chr2:179399299;179399298;179399297 |
| N2AB | 32374 | 97345;97346;97347 | chr2:178534572;178534571;178534570 | chr2:179399299;179399298;179399297 |
| N2A | 31447 | 94564;94565;94566 | chr2:178534572;178534571;178534570 | chr2:179399299;179399298;179399297 |
| N2B | 24950 | 75073;75074;75075 | chr2:178534572;178534571;178534570 | chr2:179399299;179399298;179399297 |
| Novex-1 | 25075 | 75448;75449;75450 | chr2:178534572;178534571;178534570 | chr2:179399299;179399298;179399297 |
| Novex-2 | 25142 | 75649;75650;75651 | chr2:178534572;178534571;178534570 | chr2:179399299;179399298;179399297 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTC
- RefSeq wild type template codon: AAG
- Domain: Kinase-1
- Domain position: 203
- Q(SASA): 0.0761
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | None | N | None | 0.622 | 0.300784259202 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.97 | likely_pathogenic | 0.9673 | pathogenic | -2.787 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.9462 | likely_pathogenic | 0.9407 | pathogenic | -1.334 | Destabilizing | None | None | None | None | D | 0.53278144 | None | None | N |
| F/D | 0.9909 | likely_pathogenic | 0.9905 | pathogenic | -3.54 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9916 | likely_pathogenic | 0.9918 | pathogenic | -3.297 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9886 | likely_pathogenic | 0.9878 | pathogenic | -3.236 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.948 | likely_pathogenic | 0.9415 | pathogenic | -2.32 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.9014 | likely_pathogenic | 0.8905 | pathogenic | -1.291 | Destabilizing | None | None | None | None | N | 0.496773513 | None | None | N |
| F/K | 0.9909 | likely_pathogenic | 0.9896 | pathogenic | -1.958 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.9837 | likely_pathogenic | 0.9826 | pathogenic | -1.291 | Destabilizing | None | None | None | None | N | 0.483162255 | None | None | N |
| F/M | 0.9434 | likely_pathogenic | 0.9419 | pathogenic | -1.023 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.9763 | likely_pathogenic | 0.9763 | pathogenic | -2.627 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.808 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.9856 | likely_pathogenic | 0.9854 | pathogenic | -2.438 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9766 | likely_pathogenic | 0.9734 | pathogenic | -1.839 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.9611 | likely_pathogenic | 0.9574 | pathogenic | -3.019 | Highly Destabilizing | None | None | None | None | N | 0.520411176 | None | None | N |
| F/T | 0.9765 | likely_pathogenic | 0.9747 | pathogenic | -2.655 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.8807 | likely_pathogenic | 0.871 | pathogenic | -1.808 | Destabilizing | None | None | None | None | N | 0.498824201 | None | None | N |
| F/W | 0.9017 | likely_pathogenic | 0.9002 | pathogenic | -0.465 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.516 | ambiguous | 0.5057 | ambiguous | -0.941 | Destabilizing | None | None | None | None | N | 0.51991881 | 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.