Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14266 | 43021;43022;43023 | chr2:178633563;178633562;178633561 | chr2:179498290;179498289;179498288 |
| N2AB | 12625 | 38098;38099;38100 | chr2:178633563;178633562;178633561 | chr2:179498290;179498289;179498288 |
| N2A | 11698 | 35317;35318;35319 | chr2:178633563;178633562;178633561 | chr2:179498290;179498289;179498288 |
| N2B | 5201 | 15826;15827;15828 | chr2:178633563;178633562;178633561 | chr2:179498290;179498289;179498288 |
| Novex-1 | 5326 | 16201;16202;16203 | chr2:178633563;178633562;178633561 | chr2:179498290;179498289;179498288 |
| Novex-2 | 5393 | 16402;16403;16404 | chr2:178633563;178633562;178633561 | chr2:179498290;179498289;179498288 |
| 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/D | None | None | 0.984 | N | 0.519 | 0.423 | 0.290962096972 | gnomAD-4.0.0 | 1.36876E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79919E-06 | 0 | 0 |
| G/S | rs896263032  |
None | 0.992 | D | 0.488 | 0.434 | 0.304108284078 | 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 |
| G/S | rs896263032 |
None | 0.992 | D | 0.488 | 0.434 | 0.304108284078 | gnomAD-4.0.0 | 2.56364E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78799E-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 | 0.2935 | likely_benign | 0.2065 | benign | -0.319 | Destabilizing | 0.992 | D | 0.41 | neutral | D | 0.677001164 | None | None | N |
| G/C | 0.4806 | ambiguous | 0.3533 | ambiguous | -0.953 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.717459969 | None | None | N |
| G/D | 0.1718 | likely_benign | 0.1449 | benign | -0.461 | Destabilizing | 0.984 | D | 0.519 | neutral | N | 0.511649648 | None | None | N |
| G/E | 0.2532 | likely_benign | 0.1794 | benign | -0.596 | Destabilizing | 0.683 | D | 0.374 | neutral | None | None | None | None | N |
| G/F | 0.8493 | likely_pathogenic | 0.7196 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/H | 0.4603 | ambiguous | 0.3867 | ambiguous | -0.448 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| G/I | 0.7077 | likely_pathogenic | 0.4806 | ambiguous | -0.383 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/K | 0.3777 | ambiguous | 0.2791 | benign | -0.848 | Destabilizing | 0.998 | D | 0.616 | neutral | None | None | None | None | N |
| G/L | 0.729 | likely_pathogenic | 0.5892 | pathogenic | -0.383 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/M | 0.6955 | likely_pathogenic | 0.5675 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/N | 0.1991 | likely_benign | 0.1866 | benign | -0.57 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| G/P | 0.9787 | likely_pathogenic | 0.9582 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| G/Q | 0.3086 | likely_benign | 0.2617 | benign | -0.798 | Destabilizing | 0.998 | D | 0.654 | neutral | None | None | None | None | N |
| G/R | 0.3416 | ambiguous | 0.2238 | benign | -0.417 | Destabilizing | 0.998 | D | 0.655 | neutral | D | 0.638339924 | None | None | N |
| G/S | 0.1342 | likely_benign | 0.1089 | benign | -0.755 | Destabilizing | 0.992 | D | 0.488 | neutral | D | 0.576308891 | None | None | N |
| G/T | 0.3107 | likely_benign | 0.2275 | benign | -0.809 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| G/V | 0.6054 | likely_pathogenic | 0.398 | ambiguous | -0.328 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | D | 0.717459969 | None | None | N |
| G/W | 0.7203 | likely_pathogenic | 0.5557 | ambiguous | -1.068 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/Y | 0.713 | likely_pathogenic | 0.5403 | ambiguous | -0.718 | Destabilizing | 1.0 | D | 0.745 | deleterious | 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.