Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33875 | 101848;101849;101850 | chr2:178534992;178534991;178534990 | chr2:179399719;179399718;179399717 |
| N2AB | 32234 | 96925;96926;96927 | chr2:178534992;178534991;178534990 | chr2:179399719;179399718;179399717 |
| N2A | 31307 | 94144;94145;94146 | chr2:178534992;178534991;178534990 | chr2:179399719;179399718;179399717 |
| N2B | 24810 | 74653;74654;74655 | chr2:178534992;178534991;178534990 | chr2:179399719;179399718;179399717 |
| Novex-1 | 24935 | 75028;75029;75030 | chr2:178534992;178534991;178534990 | chr2:179399719;179399718;179399717 |
| Novex-2 | 25002 | 75229;75230;75231 | chr2:178534992;178534991;178534990 | chr2:179399719;179399718;179399717 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATC
- RefSeq wild type template codon: TAG
- Domain: Kinase-1
- Domain position: 63
- Q(SASA): 0.0912
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs1343609511  |
-2.126 | None | N | None | 0.132 | 0.348983352498 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| I/V | rs1343609511 |
-2.126 | None | N | None | 0.132 | 0.348983352498 | gnomAD-4.0.0 | 2.05279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69831E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8609 | likely_pathogenic | 0.8064 | pathogenic | -2.94 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.8767 | likely_pathogenic | 0.8654 | pathogenic | -2.111 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9825 | likely_pathogenic | 0.9692 | pathogenic | -3.619 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9704 | likely_pathogenic | 0.9493 | pathogenic | -3.363 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.2878 | likely_benign | 0.2491 | benign | -1.814 | Destabilizing | None | None | None | None | N | 0.507669881 | None | None | N |
| I/G | 0.9704 | likely_pathogenic | 0.9535 | pathogenic | -3.498 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9086 | likely_pathogenic | 0.8807 | pathogenic | -2.993 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9145 | likely_pathogenic | 0.8859 | pathogenic | -2.412 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1828 | likely_benign | 0.1631 | benign | -1.292 | Destabilizing | None | None | None | None | N | 0.521729751 | None | None | N |
| I/M | 0.1778 | likely_benign | 0.1626 | benign | -1.192 | Destabilizing | None | None | None | None | D | 0.526027626 | None | None | N |
| I/N | 0.8393 | likely_pathogenic | 0.7934 | pathogenic | -2.889 | Highly Destabilizing | None | None | None | None | D | 0.53789091 | None | None | N |
| I/P | 0.9876 | likely_pathogenic | 0.9723 | pathogenic | -1.828 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9158 | likely_pathogenic | 0.8842 | pathogenic | -2.708 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8664 | likely_pathogenic | 0.8243 | pathogenic | -2.084 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.8509 | likely_pathogenic | 0.7905 | pathogenic | -3.51 | Highly Destabilizing | None | None | None | None | D | 0.53789091 | None | None | N |
| I/T | 0.8027 | likely_pathogenic | 0.7443 | pathogenic | -3.115 | Highly Destabilizing | None | None | None | None | N | 0.514253246 | None | None | N |
| I/V | 0.1616 | likely_benign | 0.1518 | benign | -1.828 | Destabilizing | None | None | None | None | N | 0.497196666 | None | None | N |
| I/W | 0.9395 | likely_pathogenic | 0.9299 | pathogenic | -2.307 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.7413 | likely_pathogenic | 0.7176 | pathogenic | -2.052 | Highly 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.