Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34132 | 102619;102620;102621 | chr2:178534221;178534220;178534219 | chr2:179398948;179398947;179398946 |
| N2AB | 32491 | 97696;97697;97698 | chr2:178534221;178534220;178534219 | chr2:179398948;179398947;179398946 |
| N2A | 31564 | 94915;94916;94917 | chr2:178534221;178534220;178534219 | chr2:179398948;179398947;179398946 |
| N2B | 25067 | 75424;75425;75426 | chr2:178534221;178534220;178534219 | chr2:179398948;179398947;179398946 |
| Novex-1 | 25192 | 75799;75800;75801 | chr2:178534221;178534220;178534219 | chr2:179398948;179398947;179398946 |
| Novex-2 | 25259 | 76000;76001;76002 | chr2:178534221;178534220;178534219 | chr2:179398948;179398947;179398946 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: TCC
- RefSeq wild type template codon: AGG
- Domain: Kinase-1
- Domain position: 320
- Q(SASA): 0.4819
- 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/F | None | None | None | N | None | 0.219 | 0.36036328697 | 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 |
| S/P | rs876658098  |
0.033 | None | N | None | 0.11 | 0.128392430309 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs876658098 |
0.033 | None | N | None | 0.11 | 0.128392430309 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs876658098 |
0.033 | None | N | None | 0.11 | 0.128392430309 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs876658098 |
-0.079 | None | N | None | 0.076 | 0.110078149338 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| S/T | rs876658098 |
-0.079 | None | N | None | 0.076 | 0.110078149338 | gnomAD-4.0.0 | 2.05246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69823E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0868 | likely_benign | 0.1121 | benign | -0.102 | Destabilizing | None | None | None | None | N | 0.426502508 | None | None | N |
| S/C | 0.3205 | likely_benign | 0.3355 | benign | -0.45 | Destabilizing | None | None | None | None | N | 0.428062733 | None | None | N |
| S/D | 0.3877 | ambiguous | 0.4056 | ambiguous | 0.087 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.5032 | ambiguous | 0.5384 | ambiguous | -0.009 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.4915 | ambiguous | 0.6068 | pathogenic | -0.808 | Destabilizing | None | None | None | None | N | 0.427889375 | None | None | N |
| S/G | 0.1347 | likely_benign | 0.1772 | benign | -0.169 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.4257 | ambiguous | 0.477 | ambiguous | -0.523 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.468 | ambiguous | 0.5896 | pathogenic | -0.061 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.652 | likely_pathogenic | 0.7118 | pathogenic | -0.431 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.2209 | likely_benign | 0.2968 | benign | -0.061 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.3921 | ambiguous | 0.4827 | ambiguous | -0.178 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.1796 | likely_benign | 0.2411 | benign | -0.244 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.087 | likely_benign | 0.1219 | benign | -0.048 | Destabilizing | None | None | None | None | N | 0.408436822 | None | None | N |
| S/Q | 0.4728 | ambiguous | 0.5506 | ambiguous | -0.424 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.6083 | likely_pathogenic | 0.6677 | pathogenic | -0.212 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.1262 | likely_benign | 0.174 | benign | -0.308 | Destabilizing | None | None | None | None | N | 0.425809075 | None | None | N |
| S/V | 0.3621 | ambiguous | 0.4826 | ambiguous | -0.048 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.6131 | likely_pathogenic | 0.6899 | pathogenic | -0.918 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.3928 | ambiguous | 0.45 | ambiguous | -0.586 | Destabilizing | None | None | None | None | N | 0.427542658 | 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.