Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33970 | 102133;102134;102135 | chr2:178534707;178534706;178534705 | chr2:179399434;179399433;179399432 |
| N2AB | 32329 | 97210;97211;97212 | chr2:178534707;178534706;178534705 | chr2:179399434;179399433;179399432 |
| N2A | 31402 | 94429;94430;94431 | chr2:178534707;178534706;178534705 | chr2:179399434;179399433;179399432 |
| N2B | 24905 | 74938;74939;74940 | chr2:178534707;178534706;178534705 | chr2:179399434;179399433;179399432 |
| Novex-1 | 25030 | 75313;75314;75315 | chr2:178534707;178534706;178534705 | chr2:179399434;179399433;179399432 |
| Novex-2 | 25097 | 75514;75515;75516 | chr2:178534707;178534706;178534705 | chr2:179399434;179399433;179399432 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: D
- RefSeq wild type transcript codon: GAC
- RefSeq wild type template codon: CTG
- Domain: Kinase-1
- Domain position: 158
- Q(SASA): 0.2688
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs749832500  |
-0.797 | None | N | None | 0.273 | 0.389439708392 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.87E-06 | 0 |
| D/N | rs749832500 |
-0.797 | None | N | None | 0.273 | 0.389439708392 | 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 |
| D/N | rs749832500 |
-0.797 | None | N | None | 0.273 | 0.389439708392 | gnomAD-4.0.0 | 4.33801E-06 | None | None | None | None | N | None | 0 | 1.66728E-05 | None | 0 | 0 | None | 0 | 0 | 3.39049E-06 | 2.19616E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7856 | likely_pathogenic | 0.786 | pathogenic | -0.646 | Destabilizing | None | None | None | None | N | 0.468466561 | None | None | N |
| D/C | 0.9568 | likely_pathogenic | 0.9563 | pathogenic | -0.308 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.4286 | ambiguous | 0.3896 | ambiguous | -0.643 | Destabilizing | None | None | None | None | N | 0.42390492 | None | None | N |
| D/F | 0.9649 | likely_pathogenic | 0.9573 | pathogenic | -0.301 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.8269 | likely_pathogenic | 0.8357 | pathogenic | -0.96 | Destabilizing | None | None | None | None | N | 0.458326925 | None | None | N |
| D/H | 0.863 | likely_pathogenic | 0.8623 | pathogenic | -0.545 | Destabilizing | None | None | None | None | N | 0.481897218 | None | None | N |
| D/I | 0.9414 | likely_pathogenic | 0.9434 | pathogenic | 0.175 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.8898 | likely_pathogenic | 0.8914 | pathogenic | -0.466 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.9455 | likely_pathogenic | 0.9419 | pathogenic | 0.175 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.9576 | likely_pathogenic | 0.9517 | pathogenic | 0.541 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.5006 | ambiguous | 0.5092 | ambiguous | -0.832 | Destabilizing | None | None | None | None | N | 0.459367075 | None | None | N |
| D/P | 0.9937 | likely_pathogenic | 0.9958 | pathogenic | -0.075 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.7593 | likely_pathogenic | 0.7532 | pathogenic | -0.72 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.9151 | likely_pathogenic | 0.9213 | pathogenic | -0.25 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.6208 | likely_pathogenic | 0.6109 | pathogenic | -1.041 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.8504 | likely_pathogenic | 0.8533 | pathogenic | -0.793 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.8462 | likely_pathogenic | 0.8487 | pathogenic | -0.075 | Destabilizing | None | None | None | None | N | 0.475989966 | None | None | N |
| D/W | 0.9857 | likely_pathogenic | 0.9859 | pathogenic | -0.111 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.762 | likely_pathogenic | 0.7559 | pathogenic | -0.08 | Destabilizing | None | None | None | None | N | 0.49732803 | 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.