Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34000 | 102223;102224;102225 | chr2:178534617;178534616;178534615 | chr2:179399344;179399343;179399342 |
| N2AB | 32359 | 97300;97301;97302 | chr2:178534617;178534616;178534615 | chr2:179399344;179399343;179399342 |
| N2A | 31432 | 94519;94520;94521 | chr2:178534617;178534616;178534615 | chr2:179399344;179399343;179399342 |
| N2B | 24935 | 75028;75029;75030 | chr2:178534617;178534616;178534615 | chr2:179399344;179399343;179399342 |
| Novex-1 | 25060 | 75403;75404;75405 | chr2:178534617;178534616;178534615 | chr2:179399344;179399343;179399342 |
| Novex-2 | 25127 | 75604;75605;75606 | chr2:178534617;178534616;178534615 | chr2:179399344;179399343;179399342 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: TCA
- RefSeq wild type template codon: AGT
- Domain: Kinase-1
- Domain position: 188
- Q(SASA): 0.0718
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/T | rs1452192430  |
-0.773 | None | N | None | 0.373 | 0.286081765059 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs1452192430 |
-0.773 | None | N | None | 0.373 | 0.286081765059 | gnomAD-4.0.0 | 1.59151E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2739 | likely_benign | 0.2578 | benign | -1.626 | Destabilizing | None | None | None | None | N | 0.464649891 | None | None | N |
| S/C | 0.4784 | ambiguous | 0.432 | ambiguous | -0.854 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.9746 | likely_pathogenic | 0.9711 | pathogenic | -1.944 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.973 | likely_pathogenic | 0.9702 | pathogenic | -1.68 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.9443 | likely_pathogenic | 0.9361 | pathogenic | -1.192 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.514 | ambiguous | 0.4713 | ambiguous | -2.012 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.9309 | likely_pathogenic | 0.9219 | pathogenic | -1.884 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.9085 | likely_pathogenic | 0.9022 | pathogenic | -0.593 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.9948 | likely_pathogenic | 0.9936 | pathogenic | -0.339 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.777 | likely_pathogenic | 0.7549 | pathogenic | -0.593 | Destabilizing | None | None | None | None | D | 0.541104731 | None | None | N |
| S/M | 0.8475 | likely_pathogenic | 0.8279 | pathogenic | -0.833 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.84 | likely_pathogenic | 0.8196 | pathogenic | -1.116 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.9572 | likely_pathogenic | 0.9472 | pathogenic | -0.912 | Destabilizing | None | None | None | None | D | 0.523000476 | None | None | N |
| S/Q | 0.9541 | likely_pathogenic | 0.9465 | pathogenic | -0.745 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.9916 | likely_pathogenic | 0.9896 | pathogenic | -0.783 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.5644 | likely_pathogenic | 0.5305 | ambiguous | -0.79 | Destabilizing | None | None | None | None | N | 0.508250355 | None | None | N |
| S/V | 0.8754 | likely_pathogenic | 0.8613 | pathogenic | -0.912 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.9707 | likely_pathogenic | 0.9669 | pathogenic | -1.409 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.8999 | likely_pathogenic | 0.8821 | pathogenic | -1.051 | 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.