Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34134 | 102625;102626;102627 | chr2:178534215;178534214;178534213 | chr2:179398942;179398941;179398940 |
| N2AB | 32493 | 97702;97703;97704 | chr2:178534215;178534214;178534213 | chr2:179398942;179398941;179398940 |
| N2A | 31566 | 94921;94922;94923 | chr2:178534215;178534214;178534213 | chr2:179398942;179398941;179398940 |
| N2B | 25069 | 75430;75431;75432 | chr2:178534215;178534214;178534213 | chr2:179398942;179398941;179398940 |
| Novex-1 | 25194 | 75805;75806;75807 | chr2:178534215;178534214;178534213 | chr2:179398942;179398941;179398940 |
| Novex-2 | 25261 | 76006;76007;76008 | chr2:178534215;178534214;178534213 | chr2:179398942;179398941;179398940 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 322
- Q(SASA): None
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | None | N | None | 0.116 | 0.238096912614 | gnomAD-4.0.0 | 1.59096E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85768E-06 | 0 | 0 |
| E/K | rs1690433095  |
None | None | N | None | 0.21 | 0.251639045875 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs1690433095 |
None | None | N | None | 0.21 | 0.251639045875 | gnomAD-4.0.0 | 5.12333E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.69415E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3043 | likely_benign | 0.3157 | benign | -0.072 | Destabilizing | None | None | None | None | N | 0.445955061 | None | None | N |
| E/C | 0.9508 | likely_pathogenic | 0.9361 | pathogenic | -0.124 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.1709 | likely_benign | 0.199 | benign | -0.326 | Destabilizing | None | None | None | None | N | 0.445434986 | None | None | N |
| E/F | 0.9263 | likely_pathogenic | 0.9012 | pathogenic | -0.013 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.3415 | ambiguous | 0.3114 | benign | -0.215 | Destabilizing | None | None | None | None | N | 0.447341927 | None | None | N |
| E/H | 0.6581 | likely_pathogenic | 0.6432 | pathogenic | 0.462 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.7023 | likely_pathogenic | 0.7318 | pathogenic | 0.255 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.3162 | likely_benign | 0.3088 | benign | 0.491 | Stabilizing | None | None | None | None | N | 0.445781702 | None | None | N |
| E/L | 0.7275 | likely_pathogenic | 0.7187 | pathogenic | 0.255 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.7529 | likely_pathogenic | 0.7671 | pathogenic | 0.084 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.3887 | ambiguous | 0.4353 | ambiguous | 0.106 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.7764 | likely_pathogenic | 0.6704 | pathogenic | 0.165 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.2286 | likely_benign | 0.2469 | benign | 0.153 | Stabilizing | None | None | None | None | N | 0.446475136 | None | None | N |
| E/R | 0.4517 | ambiguous | 0.4159 | ambiguous | 0.683 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.326 | likely_benign | 0.3586 | ambiguous | 0.022 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.4004 | ambiguous | 0.4641 | ambiguous | 0.152 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.4693 | ambiguous | 0.506 | ambiguous | 0.165 | Stabilizing | None | None | None | None | N | 0.447515286 | None | None | N |
| E/W | 0.9722 | likely_pathogenic | 0.9645 | pathogenic | 0.069 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.8446 | likely_pathogenic | 0.8274 | pathogenic | 0.217 | Stabilizing | 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.