Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8133 | 24622;24623;24624 | chr2:178718803;178718802;178718801 | chr2:179583530;179583529;179583528 |
| N2AB | 7816 | 23671;23672;23673 | chr2:178718803;178718802;178718801 | chr2:179583530;179583529;179583528 |
| N2A | 6889 | 20890;20891;20892 | chr2:178718803;178718802;178718801 | chr2:179583530;179583529;179583528 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs2077893682  |
None | None | N | 0.317 | 0.051 | 0.0482279557977 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85837E-06 | 0 | 0 |
| T/I | rs765991142 |
0.057 | 0.09 | N | 0.702 | 0.169 | 0.221734844693 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 3.9019E-04 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs765991142 |
0.057 | 0.09 | N | 0.702 | 0.169 | 0.221734844693 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs765991142 |
0.057 | 0.09 | N | 0.702 | 0.169 | 0.221734844693 | gnomAD-4.0.0 | 3.71826E-06 | None | None | None | None | N | None | 4.00513E-05 | 0 | None | 0 | 4.45712E-05 | None | 0 | 0 | 0 | 0 | 1.60113E-05 |
| T/R | rs765991142 |
-0.626 | 0.627 | N | 0.779 | 0.212 | 0.357929162469 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.94118E-04 | None | 0 | 0 | 0 |
| T/R | rs765991142 |
-0.626 | 0.627 | N | 0.779 | 0.212 | 0.357929162469 | gnomAD-4.0.0 | 1.36843E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31868E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0659 | likely_benign | 0.0697 | benign | -1.185 | Destabilizing | None | N | 0.317 | neutral | N | 0.373552592 | None | None | N |
| T/C | 0.4034 | ambiguous | 0.4607 | ambiguous | -0.891 | Destabilizing | 0.818 | D | 0.75 | deleterious | None | None | None | None | N |
| T/D | 0.8013 | likely_pathogenic | 0.8498 | pathogenic | -1.836 | Destabilizing | 0.388 | N | 0.763 | deleterious | None | None | None | None | N |
| T/E | 0.7278 | likely_pathogenic | 0.7945 | pathogenic | -1.59 | Destabilizing | 0.388 | N | 0.765 | deleterious | None | None | None | None | N |
| T/F | 0.5176 | ambiguous | 0.6129 | pathogenic | -0.786 | Destabilizing | 0.818 | D | 0.783 | deleterious | None | None | None | None | N |
| T/G | 0.3164 | likely_benign | 0.3698 | ambiguous | -1.625 | Destabilizing | 0.116 | N | 0.735 | prob.delet. | None | None | None | None | N |
| T/H | 0.5693 | likely_pathogenic | 0.6831 | pathogenic | -1.687 | Destabilizing | 0.981 | D | 0.741 | deleterious | None | None | None | None | N |
| T/I | 0.3309 | likely_benign | 0.3758 | ambiguous | -0.011 | Destabilizing | 0.09 | N | 0.702 | prob.neutral | N | 0.490321048 | None | None | N |
| T/K | 0.6467 | likely_pathogenic | 0.737 | pathogenic | -0.372 | Destabilizing | 0.324 | N | 0.764 | deleterious | N | 0.491014481 | None | None | N |
| T/L | 0.1733 | likely_benign | 0.2007 | benign | -0.011 | Destabilizing | 0.116 | N | 0.681 | prob.neutral | None | None | None | None | N |
| T/M | 0.1191 | likely_benign | 0.1324 | benign | -0.13 | Destabilizing | 0.818 | D | 0.759 | deleterious | None | None | None | None | N |
| T/N | 0.3559 | ambiguous | 0.4382 | ambiguous | -1.265 | Destabilizing | 0.563 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/P | 0.5532 | ambiguous | 0.6601 | pathogenic | -0.373 | Destabilizing | 0.324 | N | 0.768 | deleterious | N | 0.481317562 | None | None | N |
| T/Q | 0.5792 | likely_pathogenic | 0.6597 | pathogenic | -0.94 | Destabilizing | 0.818 | D | 0.791 | deleterious | None | None | None | None | N |
| T/R | 0.5195 | ambiguous | 0.6347 | pathogenic | -0.716 | Destabilizing | 0.627 | D | 0.779 | deleterious | N | 0.49436143 | None | None | N |
| T/S | 0.144 | likely_benign | 0.16 | benign | -1.457 | Destabilizing | 0.09 | N | 0.556 | neutral | N | 0.412358909 | None | None | N |
| T/V | 0.1935 | likely_benign | 0.2182 | benign | -0.373 | Destabilizing | 0.004 | N | 0.413 | neutral | None | None | None | None | N |
| T/W | 0.8242 | likely_pathogenic | 0.8824 | pathogenic | -1.015 | Destabilizing | 0.981 | D | 0.745 | deleterious | None | None | None | None | N |
| T/Y | 0.5412 | ambiguous | 0.6663 | pathogenic | -0.594 | Destabilizing | 0.932 | D | 0.78 | 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.