Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33959 | 102100;102101;102102 | chr2:178534740;178534739;178534738 | chr2:179399467;179399466;179399465 |
| N2AB | 32318 | 97177;97178;97179 | chr2:178534740;178534739;178534738 | chr2:179399467;179399466;179399465 |
| N2A | 31391 | 94396;94397;94398 | chr2:178534740;178534739;178534738 | chr2:179399467;179399466;179399465 |
| N2B | 24894 | 74905;74906;74907 | chr2:178534740;178534739;178534738 | chr2:179399467;179399466;179399465 |
| Novex-1 | 25019 | 75280;75281;75282 | chr2:178534740;178534739;178534738 | chr2:179399467;179399466;179399465 |
| Novex-2 | 25086 | 75481;75482;75483 | chr2:178534740;178534739;178534738 | chr2:179399467;179399466;179399465 |
| 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: 147
- Q(SASA): 0.1169
- 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/K | rs886055224  |
-0.864 | None | N | None | 0.471 | 0.397391247328 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs886055224 |
-0.864 | None | N | None | 0.471 | 0.397391247328 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.43267E-03 |
| E/K | rs886055224 |
-0.864 | None | N | None | 0.471 | 0.397391247328 | gnomAD-4.0.0 | 1.42532E-05 | None | None | None | None | N | None | 0 | 1.66694E-05 | None | 0 | 6.68241E-05 | None | 0 | 0 | 0 | 0 | 3.04175E-04 |
| E/V | None | None | None | N | None | 0.518 | 0.469165163779 | 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 |
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 | 0.7364 | likely_pathogenic | 0.6924 | pathogenic | -0.767 | Destabilizing | None | None | None | None | N | 0.458732357 | None | None | N |
| E/C | 0.9785 | likely_pathogenic | 0.9718 | pathogenic | -0.618 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.613 | likely_pathogenic | 0.5743 | pathogenic | -1.667 | Destabilizing | None | None | None | None | N | 0.182540936 | None | None | N |
| E/F | 0.9914 | likely_pathogenic | 0.9873 | pathogenic | -0.621 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.7887 | likely_pathogenic | 0.7462 | pathogenic | -1.176 | Destabilizing | None | None | None | None | N | 0.394086232 | None | None | N |
| E/H | 0.9484 | likely_pathogenic | 0.9262 | pathogenic | -0.998 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9692 | likely_pathogenic | 0.9594 | pathogenic | 0.362 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.8887 | likely_pathogenic | 0.8496 | pathogenic | -0.991 | Destabilizing | None | None | None | None | N | 0.458732357 | None | None | N |
| E/L | 0.9684 | likely_pathogenic | 0.9567 | pathogenic | 0.362 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9724 | likely_pathogenic | 0.9651 | pathogenic | 0.957 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.8858 | likely_pathogenic | 0.8486 | pathogenic | -1.441 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9766 | likely_pathogenic | 0.9554 | pathogenic | 0.008 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.6565 | likely_pathogenic | 0.617 | pathogenic | -1.192 | Destabilizing | None | None | None | None | N | 0.458732357 | None | None | N |
| E/R | 0.8903 | likely_pathogenic | 0.846 | pathogenic | -0.935 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.7365 | likely_pathogenic | 0.6824 | pathogenic | -1.884 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.8722 | likely_pathogenic | 0.84 | pathogenic | -1.516 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.9154 | likely_pathogenic | 0.8921 | pathogenic | 0.008 | Stabilizing | None | None | None | None | N | 0.458905715 | None | None | N |
| E/W | 0.9966 | likely_pathogenic | 0.9949 | pathogenic | -0.686 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.978 | likely_pathogenic | 0.9655 | pathogenic | -0.434 | 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.