Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28337 | 85234;85235;85236 | chr2:178561123;178561122;178561121 | chr2:179425850;179425849;179425848 |
| N2AB | 26696 | 80311;80312;80313 | chr2:178561123;178561122;178561121 | chr2:179425850;179425849;179425848 |
| N2A | 25769 | 77530;77531;77532 | chr2:178561123;178561122;178561121 | chr2:179425850;179425849;179425848 |
| N2B | 19272 | 58039;58040;58041 | chr2:178561123;178561122;178561121 | chr2:179425850;179425849;179425848 |
| Novex-1 | 19397 | 58414;58415;58416 | chr2:178561123;178561122;178561121 | chr2:179425850;179425849;179425848 |
| Novex-2 | 19464 | 58615;58616;58617 | chr2:178561123;178561122;178561121 | chr2:179425850;179425849;179425848 |
| 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/C | None | None | 1.0 | D | 0.811 | 0.571 | 0.519514513453 | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85796E-06 | 0 | 0 |
| S/G | rs1703494767  |
None | 0.999 | N | 0.569 | 0.27 | 0.252681307341 | 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/G | rs1703494767 |
None | 0.999 | N | 0.569 | 0.27 | 0.252681307341 | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | None | None | 1.0 | D | 0.815 | 0.527 | 0.619976913611 | gnomAD-4.0.0 | 2.73678E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59776E-06 | 0 | 0 |
| S/T | None | None | 0.999 | D | 0.552 | 0.389 | 0.433157607263 | gnomAD-4.0.0 | 6.84194E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99441E-07 | 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 | 0.6228 | likely_pathogenic | 0.5681 | pathogenic | -0.75 | Destabilizing | 0.998 | D | 0.507 | neutral | None | None | None | None | N |
| S/C | 0.8041 | likely_pathogenic | 0.7734 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.557680686 | None | None | N |
| S/D | 0.9939 | likely_pathogenic | 0.9923 | pathogenic | -1.114 | Destabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| S/E | 0.9972 | likely_pathogenic | 0.9962 | pathogenic | -1.012 | Destabilizing | 0.999 | D | 0.602 | neutral | None | None | None | None | N |
| S/F | 0.996 | likely_pathogenic | 0.9941 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/G | 0.357 | ambiguous | 0.3072 | benign | -1.098 | Destabilizing | 0.999 | D | 0.569 | neutral | N | 0.454099179 | None | None | N |
| S/H | 0.9937 | likely_pathogenic | 0.9924 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| S/I | 0.9928 | likely_pathogenic | 0.9908 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.815 | deleterious | D | 0.557173707 | None | None | N |
| S/K | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.748 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| S/L | 0.9564 | likely_pathogenic | 0.9456 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| S/M | 0.9784 | likely_pathogenic | 0.9743 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| S/N | 0.9789 | likely_pathogenic | 0.9705 | pathogenic | -1.073 | Destabilizing | 0.999 | D | 0.611 | neutral | D | 0.556920218 | None | None | N |
| S/P | 0.9924 | likely_pathogenic | 0.9891 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/Q | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| S/R | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.54438537 | None | None | N |
| S/T | 0.7165 | likely_pathogenic | 0.6854 | pathogenic | -0.861 | Destabilizing | 0.999 | D | 0.552 | neutral | D | 0.545145839 | None | None | N |
| S/V | 0.9878 | likely_pathogenic | 0.9841 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| S/W | 0.9955 | likely_pathogenic | 0.9943 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| S/Y | 0.994 | likely_pathogenic | 0.992 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.862 | 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.