Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34112 | 102559;102560;102561 | chr2:178534281;178534280;178534279 | chr2:179399008;179399007;179399006 |
| N2AB | 32471 | 97636;97637;97638 | chr2:178534281;178534280;178534279 | chr2:179399008;179399007;179399006 |
| N2A | 31544 | 94855;94856;94857 | chr2:178534281;178534280;178534279 | chr2:179399008;179399007;179399006 |
| N2B | 25047 | 75364;75365;75366 | chr2:178534281;178534280;178534279 | chr2:179399008;179399007;179399006 |
| Novex-1 | 25172 | 75739;75740;75741 | chr2:178534281;178534280;178534279 | chr2:179399008;179399007;179399006 |
| Novex-2 | 25239 | 75940;75941;75942 | chr2:178534281;178534280;178534279 | chr2:179399008;179399007;179399006 |
| 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: 300
- Q(SASA): 0.0704
- 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/A | rs889518198  |
None | None | N | None | 0.109 | 0.226586394389 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/A | rs889518198 |
None | None | N | None | 0.109 | 0.226586394389 | gnomAD-4.0.0 | 1.23931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69513E-06 | 0 | 0 |
| S/F | rs1252666695 |
-0.925 | None | N | None | 0.448 | 0.692499368407 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/F | rs1252666695 |
-0.925 | None | N | None | 0.448 | 0.692499368407 | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85783E-06 | 0 | 0 |
| S/P | None | None | None | N | None | 0.256 | 0.448300063881 | gnomAD-4.0.0 | 6.84182E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99426E-07 | 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 | 0.1049 | likely_benign | 0.1068 | benign | -0.655 | Destabilizing | None | None | None | None | N | 0.394099301 | None | None | N |
| S/C | 0.1429 | likely_benign | 0.1451 | benign | -1.03 | Destabilizing | None | None | None | None | N | 0.42840945 | None | None | N |
| S/D | 0.9264 | likely_pathogenic | 0.9066 | pathogenic | -1.91 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.9366 | likely_pathogenic | 0.9233 | pathogenic | -1.837 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.673 | likely_pathogenic | 0.6254 | pathogenic | -0.92 | Destabilizing | None | None | None | None | N | 0.428062733 | None | None | N |
| S/G | 0.2072 | likely_benign | 0.2187 | benign | -0.9 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.7868 | likely_pathogenic | 0.771 | pathogenic | -1.303 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.5715 | likely_pathogenic | 0.5435 | ambiguous | -0.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.9764 | likely_pathogenic | 0.9687 | pathogenic | -0.677 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.356 | ambiguous | 0.3355 | benign | -0.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.5842 | likely_pathogenic | 0.5708 | pathogenic | 0.007 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.5527 | ambiguous | 0.568 | pathogenic | -1.168 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.6268 | likely_pathogenic | 0.5844 | pathogenic | -0.249 | Destabilizing | None | None | None | None | N | 0.428062733 | None | None | N |
| S/Q | 0.8649 | likely_pathogenic | 0.8538 | pathogenic | -1.324 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.9462 | likely_pathogenic | 0.9304 | pathogenic | -0.566 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.2306 | likely_benign | 0.23 | benign | -0.893 | Destabilizing | None | None | None | None | N | 0.427195942 | None | None | N |
| S/V | 0.4968 | ambiguous | 0.484 | ambiguous | -0.249 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.8341 | likely_pathogenic | 0.8255 | pathogenic | -1.067 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.6095 | likely_pathogenic | 0.5736 | pathogenic | -0.652 | Destabilizing | None | None | None | None | N | 0.427889375 | 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.