Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34058 | 102397;102398;102399 | chr2:178534443;178534442;178534441 | chr2:179399170;179399169;179399168 |
| N2AB | 32417 | 97474;97475;97476 | chr2:178534443;178534442;178534441 | chr2:179399170;179399169;179399168 |
| N2A | 31490 | 94693;94694;94695 | chr2:178534443;178534442;178534441 | chr2:179399170;179399169;179399168 |
| N2B | 24993 | 75202;75203;75204 | chr2:178534443;178534442;178534441 | chr2:179399170;179399169;179399168 |
| Novex-1 | 25118 | 75577;75578;75579 | chr2:178534443;178534442;178534441 | chr2:179399170;179399169;179399168 |
| Novex-2 | 25185 | 75778;75779;75780 | chr2:178534443;178534442;178534441 | chr2:179399170;179399169;179399168 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: AGG
- RefSeq wild type template codon: TCC
- Domain: Kinase-1
- Domain position: 246
- Q(SASA): 0.1646
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs886039007  |
-1.219 | None | N | None | 0.145 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/K | rs886039007 |
-1.219 | None | N | None | 0.145 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.02887E-04 | 0 | 0 |
| R/K | rs886039007 |
-1.219 | None | N | None | 0.145 | None | gnomAD-4.0.0 | 8.06061E-06 | None | None | None | None | N | None | 1.33461E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32354E-06 | 0 | 1.60123E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8716 | likely_pathogenic | 0.8208 | pathogenic | -1.237 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.6759 | likely_pathogenic | 0.6789 | pathogenic | -1.326 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.9378 | likely_pathogenic | 0.9092 | pathogenic | -0.571 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.7387 | likely_pathogenic | 0.6663 | pathogenic | -0.456 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.9481 | likely_pathogenic | 0.9313 | pathogenic | -1.134 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.6779 | likely_pathogenic | 0.6091 | pathogenic | -1.531 | Destabilizing | None | None | None | None | N | 0.467329545 | None | None | N |
| R/H | 0.4458 | ambiguous | 0.4265 | ambiguous | -1.567 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.7989 | likely_pathogenic | 0.7387 | pathogenic | -0.436 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.2776 | likely_benign | 0.2397 | benign | -1.425 | Destabilizing | None | None | None | None | N | 0.423789411 | None | None | N |
| R/L | 0.7227 | likely_pathogenic | 0.6958 | pathogenic | -0.436 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.8102 | likely_pathogenic | 0.7548 | pathogenic | -0.638 | Destabilizing | None | None | None | None | N | 0.448743784 | None | None | N |
| R/N | 0.9018 | likely_pathogenic | 0.8566 | pathogenic | -0.842 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.8509 | likely_pathogenic | 0.8418 | pathogenic | -0.685 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.298 | likely_benign | 0.2678 | benign | -1.071 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.9008 | likely_pathogenic | 0.8632 | pathogenic | -1.663 | Destabilizing | None | None | None | None | N | 0.40603037 | None | None | N |
| R/T | 0.8118 | likely_pathogenic | 0.7358 | pathogenic | -1.379 | Destabilizing | None | None | None | None | N | 0.426579 | None | None | N |
| R/V | 0.8504 | likely_pathogenic | 0.8122 | pathogenic | -0.685 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.6358 | likely_pathogenic | 0.6044 | pathogenic | -0.72 | Destabilizing | None | None | None | None | N | 0.467502903 | None | None | N |
| R/Y | 0.8548 | likely_pathogenic | 0.8181 | pathogenic | -0.431 | 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.