Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33584 | 100975;100976;100977 | chr2:178535997;178535996;178535995 | chr2:179400724;179400723;179400722 |
| N2AB | 31943 | 96052;96053;96054 | chr2:178535997;178535996;178535995 | chr2:179400724;179400723;179400722 |
| N2A | 31016 | 93271;93272;93273 | chr2:178535997;178535996;178535995 | chr2:179400724;179400723;179400722 |
| N2B | 24519 | 73780;73781;73782 | chr2:178535997;178535996;178535995 | chr2:179400724;179400723;179400722 |
| Novex-1 | 24644 | 74155;74156;74157 | chr2:178535997;178535996;178535995 | chr2:179400724;179400723;179400722 |
| Novex-2 | 24711 | 74356;74357;74358 | chr2:178535997;178535996;178535995 | chr2:179400724;179400723;179400722 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs1280611526  |
None | 0.765 | N | 0.531 | 0.255 | 0.294918367191 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | rs1280611526 |
None | 0.765 | N | 0.531 | 0.255 | 0.294918367191 | gnomAD-4.0.0 | 6.57134E-06 | None | None | None | None | N | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs1280611526 |
-0.464 | 0.999 | N | 0.751 | 0.513 | 0.440394187108 | gnomAD-2.1.1 | 5.38E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.39E-05 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1280611526 |
-0.464 | 0.999 | N | 0.751 | 0.513 | 0.440394187108 | gnomAD-4.0.0 | 1.82323E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.82008E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1054 | likely_benign | 0.1095 | benign | -0.808 | Destabilizing | 0.765 | D | 0.531 | neutral | N | 0.483132156 | None | None | N |
| S/C | 0.208 | likely_benign | 0.2122 | benign | -0.629 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.493218109 | None | None | N |
| S/D | 0.7246 | likely_pathogenic | 0.659 | pathogenic | -0.367 | Destabilizing | 0.972 | D | 0.524 | neutral | None | None | None | None | N |
| S/E | 0.7713 | likely_pathogenic | 0.7054 | pathogenic | -0.39 | Destabilizing | 0.99 | D | 0.544 | neutral | None | None | None | None | N |
| S/F | 0.296 | likely_benign | 0.289 | benign | -1.148 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.478438412 | None | None | N |
| S/G | 0.1929 | likely_benign | 0.1973 | benign | -1.012 | Destabilizing | 0.982 | D | 0.537 | neutral | None | None | None | None | N |
| S/H | 0.5381 | ambiguous | 0.4973 | ambiguous | -1.528 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| S/I | 0.2321 | likely_benign | 0.2222 | benign | -0.374 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| S/K | 0.8886 | likely_pathogenic | 0.8519 | pathogenic | -0.657 | Destabilizing | 0.996 | D | 0.544 | neutral | None | None | None | None | N |
| S/L | 0.1321 | likely_benign | 0.1371 | benign | -0.374 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/M | 0.2411 | likely_benign | 0.2611 | benign | -0.015 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/N | 0.1909 | likely_benign | 0.1792 | benign | -0.591 | Destabilizing | 0.044 | N | 0.234 | neutral | None | None | None | None | N |
| S/P | 0.5932 | likely_pathogenic | 0.5403 | ambiguous | -0.488 | Destabilizing | 0.999 | D | 0.751 | deleterious | N | 0.509222679 | None | None | N |
| S/Q | 0.6801 | likely_pathogenic | 0.6324 | pathogenic | -0.847 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| S/R | 0.8403 | likely_pathogenic | 0.7789 | pathogenic | -0.501 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| S/T | 0.1027 | likely_benign | 0.106 | benign | -0.651 | Destabilizing | 0.86 | D | 0.528 | neutral | N | 0.44393905 | None | None | N |
| S/V | 0.2241 | likely_benign | 0.2306 | benign | -0.488 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| S/W | 0.6115 | likely_pathogenic | 0.5817 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/Y | 0.3142 | likely_benign | 0.3029 | benign | -0.809 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.464239751 | 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.