Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33991 | 102196;102197;102198 | chr2:178534644;178534643;178534642 | chr2:179399371;179399370;179399369 |
| N2AB | 32350 | 97273;97274;97275 | chr2:178534644;178534643;178534642 | chr2:179399371;179399370;179399369 |
| N2A | 31423 | 94492;94493;94494 | chr2:178534644;178534643;178534642 | chr2:179399371;179399370;179399369 |
| N2B | 24926 | 75001;75002;75003 | chr2:178534644;178534643;178534642 | chr2:179399371;179399370;179399369 |
| Novex-1 | 25051 | 75376;75377;75378 | chr2:178534644;178534643;178534642 | chr2:179399371;179399370;179399369 |
| Novex-2 | 25118 | 75577;75578;75579 | chr2:178534644;178534643;178534642 | chr2:179399371;179399370;179399369 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: V
- RefSeq wild type transcript codon: GTT
- RefSeq wild type template codon: CAA
- Domain: Kinase-1
- Domain position: 179
- Q(SASA): 0.1803
- 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/F | rs1423532628  |
-1.2 | None | N | None | 0.196 | 0.672020861447 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| V/F | rs1423532628 |
-1.2 | None | N | None | 0.196 | 0.672020861447 | gnomAD-4.0.0 | 4.77544E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29898E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3515 | ambiguous | 0.3003 | benign | -1.317 | Destabilizing | None | None | None | None | N | 0.426985298 | None | None | N |
| V/C | 0.8693 | likely_pathogenic | 0.8217 | pathogenic | -0.919 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.6987 | likely_pathogenic | 0.6047 | pathogenic | -1.146 | Destabilizing | None | None | None | None | N | 0.428793452 | None | None | N |
| V/E | 0.5507 | ambiguous | 0.4831 | ambiguous | -1.189 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.2856 | likely_benign | 0.2549 | benign | -1.069 | Destabilizing | None | None | None | None | N | 0.446707209 | None | None | N |
| V/G | 0.5334 | ambiguous | 0.4689 | ambiguous | -1.575 | Destabilizing | None | None | None | None | N | 0.368745071 | None | None | N |
| V/H | 0.7884 | likely_pathogenic | 0.7568 | pathogenic | -1.007 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.1025 | likely_benign | 0.0972 | benign | -0.731 | Destabilizing | None | None | None | None | N | 0.437357007 | None | None | N |
| V/K | 0.6252 | likely_pathogenic | 0.5484 | ambiguous | -1.108 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.2629 | likely_benign | 0.2399 | benign | -0.731 | Destabilizing | None | None | None | None | N | 0.409266329 | None | None | N |
| V/M | 0.2187 | likely_benign | 0.2001 | benign | -0.571 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.5724 | likely_pathogenic | 0.5078 | ambiguous | -0.869 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9163 | likely_pathogenic | 0.8739 | pathogenic | -0.891 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.5811 | likely_pathogenic | 0.5483 | ambiguous | -1.115 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.5368 | ambiguous | 0.4787 | ambiguous | -0.496 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.4631 | ambiguous | 0.3897 | ambiguous | -1.339 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.3003 | likely_benign | 0.2587 | benign | -1.286 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9099 | likely_pathogenic | 0.8943 | pathogenic | -1.17 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.7264 | likely_pathogenic | 0.669 | pathogenic | -0.916 | 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.