Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5366 | 16321;16322;16323 | chr2:178733080;178733079;178733078 | chr2:179597807;179597806;179597805 |
| N2AB | 5049 | 15370;15371;15372 | chr2:178733080;178733079;178733078 | chr2:179597807;179597806;179597805 |
| N2A | 4122 | 12589;12590;12591 | chr2:178733080;178733079;178733078 | chr2:179597807;179597806;179597805 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs754980942  |
-1.779 | 0.782 | N | 0.684 | 0.632 | None | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| V/G | rs754980942 |
-1.779 | 0.782 | N | 0.684 | 0.632 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs754980942 |
-1.779 | 0.782 | N | 0.684 | 0.632 | None | gnomAD-4.0.0 | 2.49006E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.40271E-06 | 0 | 0 |
| V/M | rs372176136 |
-0.65 | 0.543 | D | 0.445 | 0.121 | 0.413891365518 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.05E-06 | 0 |
| V/M | rs372176136 |
-0.65 | 0.543 | D | 0.445 | 0.121 | 0.413891365518 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | rs372176136 |
-0.65 | 0.543 | D | 0.445 | 0.121 | 0.413891365518 | gnomAD-4.0.0 | 3.2364E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.33786E-05 | 0 | 1.60958E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1172 | likely_benign | 0.1142 | benign | -1.142 | Destabilizing | 0.174 | N | 0.544 | neutral | N | 0.512495058 | None | None | N |
| V/C | 0.6559 | likely_pathogenic | 0.652 | pathogenic | -0.774 | Destabilizing | 0.991 | D | 0.621 | neutral | None | None | None | None | N |
| V/D | 0.3262 | likely_benign | 0.3257 | benign | -0.769 | Destabilizing | 0.826 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/E | 0.2448 | likely_benign | 0.2453 | benign | -0.817 | Destabilizing | 0.782 | D | 0.683 | prob.neutral | N | 0.518538383 | None | None | N |
| V/F | 0.1421 | likely_benign | 0.1329 | benign | -0.995 | Destabilizing | 0.826 | D | 0.659 | neutral | None | None | None | None | N |
| V/G | 0.1803 | likely_benign | 0.1791 | benign | -1.405 | Destabilizing | 0.782 | D | 0.684 | prob.neutral | N | 0.508047589 | None | None | N |
| V/H | 0.4185 | ambiguous | 0.4149 | ambiguous | -1.004 | Destabilizing | 0.991 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/I | 0.0693 | likely_benign | 0.0681 | benign | -0.547 | Destabilizing | 0.004 | N | 0.197 | neutral | None | None | None | None | N |
| V/K | 0.2555 | likely_benign | 0.2522 | benign | -0.943 | Destabilizing | 0.826 | D | 0.675 | prob.neutral | None | None | None | None | N |
| V/L | 0.1507 | likely_benign | 0.1426 | benign | -0.547 | Destabilizing | 0.156 | N | 0.417 | neutral | N | 0.493946583 | None | None | N |
| V/M | 0.0938 | likely_benign | 0.0923 | benign | -0.416 | Destabilizing | 0.543 | D | 0.445 | neutral | D | 0.532929045 | None | None | N |
| V/N | 0.2178 | likely_benign | 0.2214 | benign | -0.614 | Destabilizing | 0.826 | D | 0.748 | deleterious | None | None | None | None | N |
| V/P | 0.7144 | likely_pathogenic | 0.7276 | pathogenic | -0.709 | Destabilizing | 0.906 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/Q | 0.2412 | likely_benign | 0.2388 | benign | -0.822 | Destabilizing | 0.906 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/R | 0.21 | likely_benign | 0.2028 | benign | -0.442 | Destabilizing | 0.906 | D | 0.75 | deleterious | None | None | None | None | N |
| V/S | 0.1595 | likely_benign | 0.1615 | benign | -1.102 | Destabilizing | 0.404 | N | 0.651 | neutral | None | None | None | None | N |
| V/T | 0.1069 | likely_benign | 0.1033 | benign | -1.044 | Destabilizing | 0.04 | N | 0.319 | neutral | None | None | None | None | N |
| V/W | 0.6359 | likely_pathogenic | 0.6287 | pathogenic | -1.126 | Destabilizing | 0.991 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/Y | 0.4254 | ambiguous | 0.4164 | ambiguous | -0.843 | Destabilizing | 0.906 | D | 0.669 | neutral | 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.