Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33972 | 102139;102140;102141 | chr2:178534701;178534700;178534699 | chr2:179399428;179399427;179399426 |
| N2AB | 32331 | 97216;97217;97218 | chr2:178534701;178534700;178534699 | chr2:179399428;179399427;179399426 |
| N2A | 31404 | 94435;94436;94437 | chr2:178534701;178534700;178534699 | chr2:179399428;179399427;179399426 |
| N2B | 24907 | 74944;74945;74946 | chr2:178534701;178534700;178534699 | chr2:179399428;179399427;179399426 |
| Novex-1 | 25032 | 75319;75320;75321 | chr2:178534701;178534700;178534699 | chr2:179399428;179399427;179399426 |
| Novex-2 | 25099 | 75520;75521;75522 | chr2:178534701;178534700;178534699 | chr2:179399428;179399427;179399426 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTC
- RefSeq wild type template codon: AAG
- Domain: Kinase-1
- Domain position: 160
- Q(SASA): 0.1308
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | None | N | None | 0.49 | 0.732891837414 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9377 | likely_pathogenic | 0.9493 | pathogenic | -2.563 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.7778 | likely_pathogenic | 0.8178 | pathogenic | -1.948 | Destabilizing | None | None | None | None | N | 0.469949428 | None | None | N |
| F/D | 0.9905 | likely_pathogenic | 0.9922 | pathogenic | -2.148 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9879 | likely_pathogenic | 0.9899 | pathogenic | -1.98 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9838 | likely_pathogenic | 0.9877 | pathogenic | -2.967 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.928 | likely_pathogenic | 0.9407 | pathogenic | -1.311 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.5139 | ambiguous | 0.4928 | ambiguous | -1.284 | Destabilizing | None | None | None | None | N | 0.427140013 | None | None | N |
| F/K | 0.982 | likely_pathogenic | 0.9814 | pathogenic | -2.124 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.9157 | likely_pathogenic | 0.9261 | pathogenic | -1.284 | Destabilizing | None | None | None | None | N | 0.396681034 | None | None | N |
| F/M | 0.787 | likely_pathogenic | 0.801 | pathogenic | -1.109 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.9735 | likely_pathogenic | 0.9765 | pathogenic | -2.456 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.9959 | likely_pathogenic | 0.9975 | pathogenic | -1.714 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.9745 | likely_pathogenic | 0.978 | pathogenic | -2.398 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9644 | likely_pathogenic | 0.9655 | pathogenic | -1.594 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.9534 | likely_pathogenic | 0.9625 | pathogenic | -3.197 | Highly Destabilizing | None | None | None | None | N | 0.417904455 | None | None | N |
| F/T | 0.9256 | likely_pathogenic | 0.9338 | pathogenic | -2.913 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.5397 | ambiguous | 0.5501 | ambiguous | -1.714 | Destabilizing | None | None | None | None | N | 0.396990465 | None | None | N |
| F/W | 0.8424 | likely_pathogenic | 0.8763 | pathogenic | -0.42 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.4387 | ambiguous | 0.5012 | ambiguous | -0.779 | Destabilizing | None | None | None | None | N | 0.448072646 | 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.