Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20774 | 62545;62546;62547 | chr2:178589405;178589404;178589403 | chr2:179454132;179454131;179454130 |
| N2AB | 19133 | 57622;57623;57624 | chr2:178589405;178589404;178589403 | chr2:179454132;179454131;179454130 |
| N2A | 18206 | 54841;54842;54843 | chr2:178589405;178589404;178589403 | chr2:179454132;179454131;179454130 |
| N2B | 11709 | 35350;35351;35352 | chr2:178589405;178589404;178589403 | chr2:179454132;179454131;179454130 |
| Novex-1 | 11834 | 35725;35726;35727 | chr2:178589405;178589404;178589403 | chr2:179454132;179454131;179454130 |
| Novex-2 | 11901 | 35926;35927;35928 | chr2:178589405;178589404;178589403 | chr2:179454132;179454131;179454130 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | None | None | 1.0 | N | 0.76 | 0.364 | 0.136095386433 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85897E-06 | 0 | 0 |
| K/R | None | None | 0.999 | N | 0.663 | 0.271 | 0.177238962908 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4708 | ambiguous | 0.5324 | ambiguous | 0.011 | Stabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| K/C | 0.7457 | likely_pathogenic | 0.8147 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| K/D | 0.6927 | likely_pathogenic | 0.765 | pathogenic | 0.058 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| K/E | 0.3669 | ambiguous | 0.4228 | ambiguous | 0.071 | Stabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.454184404 | None | None | N |
| K/F | 0.8128 | likely_pathogenic | 0.8627 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| K/G | 0.5917 | likely_pathogenic | 0.6424 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| K/H | 0.2884 | likely_benign | 0.3467 | ambiguous | -0.421 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| K/I | 0.4599 | ambiguous | 0.5499 | ambiguous | 0.491 | Stabilizing | 1.0 | D | 0.747 | deleterious | N | 0.482456876 | None | None | N |
| K/L | 0.4104 | ambiguous | 0.4952 | ambiguous | 0.491 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| K/M | 0.3568 | ambiguous | 0.4149 | ambiguous | 0.208 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/N | 0.5188 | ambiguous | 0.5882 | pathogenic | 0.191 | Stabilizing | 1.0 | D | 0.775 | deleterious | N | 0.454477573 | None | None | N |
| K/P | 0.652 | likely_pathogenic | 0.6847 | pathogenic | 0.359 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/Q | 0.1514 | likely_benign | 0.1755 | benign | 0.028 | Stabilizing | 1.0 | D | 0.76 | deleterious | N | 0.457008787 | None | None | N |
| K/R | 0.0939 | likely_benign | 0.1003 | benign | -0.055 | Destabilizing | 0.999 | D | 0.663 | neutral | N | 0.505213142 | None | None | N |
| K/S | 0.5101 | ambiguous | 0.5845 | pathogenic | -0.296 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| K/T | 0.2598 | likely_benign | 0.3021 | benign | -0.132 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.493187994 | None | None | N |
| K/V | 0.405 | ambiguous | 0.4926 | ambiguous | 0.359 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| K/W | 0.8221 | likely_pathogenic | 0.8529 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| K/Y | 0.6938 | likely_pathogenic | 0.7507 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | 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.