Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17094 | 51505;51506;51507 | chr2:178610246;178610245;178610244 | chr2:179474973;179474972;179474971 |
| N2AB | 15453 | 46582;46583;46584 | chr2:178610246;178610245;178610244 | chr2:179474973;179474972;179474971 |
| N2A | 14526 | 43801;43802;43803 | chr2:178610246;178610245;178610244 | chr2:179474973;179474972;179474971 |
| N2B | 8029 | 24310;24311;24312 | chr2:178610246;178610245;178610244 | chr2:179474973;179474972;179474971 |
| Novex-1 | 8154 | 24685;24686;24687 | chr2:178610246;178610245;178610244 | chr2:179474973;179474972;179474971 |
| Novex-2 | 8221 | 24886;24887;24888 | chr2:178610246;178610245;178610244 | chr2:179474973;179474972;179474971 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs1314484899  |
-1.638 | 1.0 | N | 0.703 | 0.507 | 0.552575064031 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| Y/C | rs1314484899 |
-1.638 | 1.0 | N | 0.703 | 0.507 | 0.552575064031 | gnomAD-4.0.0 | 4.77838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72344E-06 | 0 | 3.02902E-05 |
| Y/H | None | None | 1.0 | N | 0.746 | 0.476 | 0.42130639912 | gnomAD-4.0.0 | 2.73796E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79961E-06 | 0 | 3.3162E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9911 | likely_pathogenic | 0.9891 | pathogenic | -3.016 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| Y/C | 0.9164 | likely_pathogenic | 0.9091 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.491524274 | None | None | N |
| Y/D | 0.9899 | likely_pathogenic | 0.9863 | pathogenic | -2.409 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.516995935 | None | None | N |
| Y/E | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| Y/F | 0.1232 | likely_benign | 0.1402 | benign | -1.255 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.419240101 | None | None | N |
| Y/G | 0.9882 | likely_pathogenic | 0.9847 | pathogenic | -3.35 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| Y/H | 0.9131 | likely_pathogenic | 0.9167 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.512187548 | None | None | N |
| Y/I | 0.9884 | likely_pathogenic | 0.9853 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| Y/K | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| Y/L | 0.9707 | likely_pathogenic | 0.9671 | pathogenic | -1.939 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| Y/M | 0.9868 | likely_pathogenic | 0.9841 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| Y/N | 0.9608 | likely_pathogenic | 0.9568 | pathogenic | -2.065 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.512360906 | None | None | N |
| Y/P | 0.9937 | likely_pathogenic | 0.993 | pathogenic | -2.304 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| Y/Q | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| Y/R | 0.9958 | likely_pathogenic | 0.9952 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| Y/S | 0.9627 | likely_pathogenic | 0.9533 | pathogenic | -2.528 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.50612558 | None | None | N |
| Y/T | 0.9936 | likely_pathogenic | 0.9913 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| Y/V | 0.9766 | likely_pathogenic | 0.9697 | pathogenic | -2.304 | Highly Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| Y/W | 0.3599 | ambiguous | 0.3487 | ambiguous | -0.634 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | 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.