Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21546 | 64861;64862;64863 | chr2:178585108;178585107;178585106 | chr2:179449835;179449834;179449833 |
| N2AB | 19905 | 59938;59939;59940 | chr2:178585108;178585107;178585106 | chr2:179449835;179449834;179449833 |
| N2A | 18978 | 57157;57158;57159 | chr2:178585108;178585107;178585106 | chr2:179449835;179449834;179449833 |
| N2B | 12481 | 37666;37667;37668 | chr2:178585108;178585107;178585106 | chr2:179449835;179449834;179449833 |
| Novex-1 | 12606 | 38041;38042;38043 | chr2:178585108;178585107;178585106 | chr2:179449835;179449834;179449833 |
| Novex-2 | 12673 | 38242;38243;38244 | chr2:178585108;178585107;178585106 | chr2:179449835;179449834;179449833 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.949 | D | 0.469 | 0.466 | 0.422160833541 | gnomAD-4.0.0 | 1.59653E-06 | None | None | None | None | I | None | 5.69022E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.855 | 0.507 | 0.644839269284 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5377 | ambiguous | 0.3892 | ambiguous | -0.094 | Destabilizing | 0.949 | D | 0.469 | neutral | D | 0.530026114 | None | None | I |
| G/C | 0.7154 | likely_pathogenic | 0.5832 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/D | 0.8857 | likely_pathogenic | 0.81 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/E | 0.9213 | likely_pathogenic | 0.861 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.530866013 | None | None | I |
| G/F | 0.9615 | likely_pathogenic | 0.9398 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/H | 0.9311 | likely_pathogenic | 0.8829 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/I | 0.948 | likely_pathogenic | 0.9135 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/K | 0.9306 | likely_pathogenic | 0.8829 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/L | 0.9438 | likely_pathogenic | 0.9037 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/M | 0.9527 | likely_pathogenic | 0.9106 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/N | 0.8784 | likely_pathogenic | 0.7768 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/P | 0.998 | likely_pathogenic | 0.9978 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/Q | 0.8868 | likely_pathogenic | 0.8116 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/R | 0.8437 | likely_pathogenic | 0.7927 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.581304141 | None | None | I |
| G/S | 0.4505 | ambiguous | 0.3038 | benign | -0.262 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | I |
| G/T | 0.823 | likely_pathogenic | 0.686 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/V | 0.8954 | likely_pathogenic | 0.8349 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.614180441 | None | None | I |
| G/W | 0.955 | likely_pathogenic | 0.9377 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.614584049 | None | None | I |
| G/Y | 0.9456 | likely_pathogenic | 0.9056 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
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.