Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33960 | 102103;102104;102105 | chr2:178534737;178534736;178534735 | chr2:179399464;179399463;179399462 |
| N2AB | 32319 | 97180;97181;97182 | chr2:178534737;178534736;178534735 | chr2:179399464;179399463;179399462 |
| N2A | 31392 | 94399;94400;94401 | chr2:178534737;178534736;178534735 | chr2:179399464;179399463;179399462 |
| N2B | 24895 | 74908;74909;74910 | chr2:178534737;178534736;178534735 | chr2:179399464;179399463;179399462 |
| Novex-1 | 25020 | 75283;75284;75285 | chr2:178534737;178534736;178534735 | chr2:179399464;179399463;179399462 |
| Novex-2 | 25087 | 75484;75485;75486 | chr2:178534737;178534736;178534735 | chr2:179399464;179399463;179399462 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTT
- RefSeq wild type template codon: AAA
- Domain: Kinase-1
- Domain position: 148
- Q(SASA): 0.1404
- 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/L | rs1690680023  |
None | None | N | None | 0.447 | 0.486567385682 | 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 |
| F/L | rs1690680023 |
None | None | N | None | 0.447 | 0.486567385682 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47029E-05 | 0 | 0 |
| F/S | rs1690678952 |
None | None | D | None | 0.834 | 0.814503692122 | 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 |
| F/S | rs1690678952 |
None | None | D | None | 0.834 | 0.814503692122 | gnomAD-4.0.0 | 2.56202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78581E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9058 | likely_pathogenic | 0.8848 | pathogenic | -3.201 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.8581 | likely_pathogenic | 0.844 | pathogenic | -2.358 | Highly Destabilizing | None | None | None | None | D | 0.562034867 | None | None | N |
| F/D | 0.9793 | likely_pathogenic | 0.9726 | pathogenic | -3.745 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9833 | likely_pathogenic | 0.9781 | pathogenic | -3.551 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9636 | likely_pathogenic | 0.9569 | pathogenic | -3.645 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.9484 | likely_pathogenic | 0.9338 | pathogenic | -2.125 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.7303 | likely_pathogenic | 0.6759 | pathogenic | -1.744 | Destabilizing | None | None | None | None | D | 0.561781377 | None | None | N |
| F/K | 0.9815 | likely_pathogenic | 0.9734 | pathogenic | -2.674 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.9453 | likely_pathogenic | 0.944 | pathogenic | -1.744 | Destabilizing | None | None | None | None | N | 0.50560528 | None | None | N |
| F/M | 0.7447 | likely_pathogenic | 0.7348 | pathogenic | -1.418 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.9451 | likely_pathogenic | 0.9306 | pathogenic | -3.14 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.9949 | likely_pathogenic | 0.9932 | pathogenic | -2.242 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.9758 | likely_pathogenic | 0.9708 | pathogenic | -3.126 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9663 | likely_pathogenic | 0.9572 | pathogenic | -2.044 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.9243 | likely_pathogenic | 0.8999 | pathogenic | -3.77 | Highly Destabilizing | None | None | None | None | D | 0.550678561 | None | None | N |
| F/T | 0.8913 | likely_pathogenic | 0.8577 | pathogenic | -3.462 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.72 | likely_pathogenic | 0.6855 | pathogenic | -2.242 | Highly Destabilizing | None | None | None | None | D | 0.561781377 | None | None | N |
| F/W | 0.7781 | likely_pathogenic | 0.7443 | pathogenic | -0.798 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.4456 | ambiguous | 0.4049 | ambiguous | -1.224 | Destabilizing | None | None | None | None | D | 0.525012982 | 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.