Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34097 | 102514;102515;102516 | chr2:178534326;178534325;178534324 | chr2:179399053;179399052;179399051 |
| N2AB | 32456 | 97591;97592;97593 | chr2:178534326;178534325;178534324 | chr2:179399053;179399052;179399051 |
| N2A | 31529 | 94810;94811;94812 | chr2:178534326;178534325;178534324 | chr2:179399053;179399052;179399051 |
| N2B | 25032 | 75319;75320;75321 | chr2:178534326;178534325;178534324 | chr2:179399053;179399052;179399051 |
| Novex-1 | 25157 | 75694;75695;75696 | chr2:178534326;178534325;178534324 | chr2:179399053;179399052;179399051 |
| Novex-2 | 25224 | 75895;75896;75897 | chr2:178534326;178534325;178534324 | chr2:179399053;179399052;179399051 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTG
- RefSeq wild type template codon: GAC
- Domain: Kinase-1
- Domain position: 285
- Q(SASA): 0.1089
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/M | rs775734528  |
-0.904 | None | N | None | 0.071 | 0.362960570912 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/M | rs775734528 |
-0.904 | None | N | None | 0.071 | 0.362960570912 | gnomAD-4.0.0 | 1.59257E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs1324222809 |
-1.682 | None | N | None | 0.464 | 0.640234435771 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| L/P | rs1324222809 |
-1.682 | None | N | None | 0.464 | 0.640234435771 | gnomAD-4.0.0 | 3.42212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49715E-06 | 0 | 0 |
| L/Q | None | None | None | N | None | 0.505 | 0.631849437455 | gnomAD-4.0.0 | 6.84423E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99429E-07 | 0 | 0 |
| L/R | None | None | None | N | None | 0.51 | 0.631480547386 | gnomAD-4.0.0 | 1.36885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 8.99429E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.6443 | likely_pathogenic | 0.6651 | pathogenic | -2.437 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.8769 | likely_pathogenic | 0.8814 | pathogenic | -1.651 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.982 | likely_pathogenic | 0.9828 | pathogenic | -2.984 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.8846 | likely_pathogenic | 0.8977 | pathogenic | -2.727 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.5192 | ambiguous | 0.5193 | ambiguous | -1.516 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.9304 | likely_pathogenic | 0.9294 | pathogenic | -2.989 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.8049 | likely_pathogenic | 0.8346 | pathogenic | -2.505 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.1859 | likely_benign | 0.198 | benign | -0.825 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.781 | likely_pathogenic | 0.8155 | pathogenic | -1.978 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.1974 | likely_benign | 0.2206 | benign | -0.721 | Destabilizing | None | None | None | None | N | 0.410900259 | None | None | N |
| L/N | 0.8845 | likely_pathogenic | 0.9042 | pathogenic | -2.425 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9654 | likely_pathogenic | 0.9571 | pathogenic | -1.345 | Destabilizing | None | None | None | None | N | 0.428619228 | None | None | N |
| L/Q | 0.5996 | likely_pathogenic | 0.6734 | pathogenic | -2.238 | Highly Destabilizing | None | None | None | None | N | 0.429139303 | None | None | N |
| L/R | 0.7193 | likely_pathogenic | 0.7504 | pathogenic | -1.794 | Destabilizing | None | None | None | None | N | 0.428792586 | None | None | N |
| L/S | 0.8255 | likely_pathogenic | 0.8458 | pathogenic | -3.058 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.6566 | likely_pathogenic | 0.7067 | pathogenic | -2.646 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.2259 | likely_benign | 0.2379 | benign | -1.345 | Destabilizing | None | None | None | None | N | 0.428272511 | None | None | N |
| L/W | 0.8147 | likely_pathogenic | 0.7993 | pathogenic | -1.937 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.8465 | likely_pathogenic | 0.8556 | pathogenic | -1.603 | 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.