Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31462 | 94609;94610;94611 | chr2:178547141;178547140;178547139 | chr2:179411868;179411867;179411866 |
| N2AB | 29821 | 89686;89687;89688 | chr2:178547141;178547140;178547139 | chr2:179411868;179411867;179411866 |
| N2A | 28894 | 86905;86906;86907 | chr2:178547141;178547140;178547139 | chr2:179411868;179411867;179411866 |
| N2B | 22397 | 67414;67415;67416 | chr2:178547141;178547140;178547139 | chr2:179411868;179411867;179411866 |
| Novex-1 | 22522 | 67789;67790;67791 | chr2:178547141;178547140;178547139 | chr2:179411868;179411867;179411866 |
| Novex-2 | 22589 | 67990;67991;67992 | chr2:178547141;178547140;178547139 | chr2:179411868;179411867;179411866 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.058 | N | 0.289 | 0.231 | 0.191931220699 | gnomAD-4.0.0 | 6.84202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99475E-07 | 0 | 0 |
| P/S | rs1311115144  |
None | 0.126 | N | 0.267 | 0.219 | 0.199424873507 | gnomAD-4.0.0 | 6.84202E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1311115144 |
-1.222 | 0.698 | N | 0.575 | 0.316 | 0.389596023526 | 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 |
| P/T | rs1311115144 |
-1.222 | 0.698 | N | 0.575 | 0.316 | 0.389596023526 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4702E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1058 | likely_benign | 0.1283 | benign | -1.438 | Destabilizing | 0.058 | N | 0.289 | neutral | N | 0.518364159 | None | None | N |
| P/C | 0.6333 | likely_pathogenic | 0.7051 | pathogenic | -0.644 | Destabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/D | 0.9504 | likely_pathogenic | 0.9731 | pathogenic | -1.357 | Destabilizing | 0.956 | D | 0.625 | neutral | None | None | None | None | N |
| P/E | 0.784 | likely_pathogenic | 0.8658 | pathogenic | -1.263 | Destabilizing | 0.956 | D | 0.621 | neutral | None | None | None | None | N |
| P/F | 0.8207 | likely_pathogenic | 0.9014 | pathogenic | -0.973 | Destabilizing | 0.994 | D | 0.743 | deleterious | None | None | None | None | N |
| P/G | 0.7158 | likely_pathogenic | 0.7776 | pathogenic | -1.834 | Destabilizing | 0.754 | D | 0.547 | neutral | None | None | None | None | N |
| P/H | 0.6748 | likely_pathogenic | 0.7926 | pathogenic | -1.435 | Destabilizing | 0.994 | D | 0.683 | prob.neutral | None | None | None | None | N |
| P/I | 0.3565 | ambiguous | 0.4779 | ambiguous | -0.41 | Destabilizing | 0.978 | D | 0.763 | deleterious | None | None | None | None | N |
| P/K | 0.8415 | likely_pathogenic | 0.9151 | pathogenic | -1.05 | Destabilizing | 0.915 | D | 0.617 | neutral | None | None | None | None | N |
| P/L | 0.1648 | likely_benign | 0.2354 | benign | -0.41 | Destabilizing | 0.942 | D | 0.676 | prob.neutral | N | 0.465089821 | None | None | N |
| P/M | 0.4713 | ambiguous | 0.5888 | pathogenic | -0.204 | Destabilizing | 0.998 | D | 0.684 | prob.neutral | None | None | None | None | N |
| P/N | 0.8175 | likely_pathogenic | 0.8828 | pathogenic | -1.024 | Destabilizing | 0.915 | D | 0.743 | deleterious | None | None | None | None | N |
| P/Q | 0.509 | ambiguous | 0.6422 | pathogenic | -1.055 | Destabilizing | 0.942 | D | 0.696 | prob.neutral | N | 0.479535539 | None | None | N |
| P/R | 0.671 | likely_pathogenic | 0.7985 | pathogenic | -0.694 | Destabilizing | 0.942 | D | 0.733 | prob.delet. | N | 0.519766881 | None | None | N |
| P/S | 0.3495 | ambiguous | 0.4518 | ambiguous | -1.585 | Destabilizing | 0.126 | N | 0.267 | neutral | N | 0.519884311 | None | None | N |
| P/T | 0.2627 | likely_benign | 0.3576 | ambiguous | -1.371 | Destabilizing | 0.698 | D | 0.575 | neutral | N | 0.512555694 | None | None | N |
| P/V | 0.2488 | likely_benign | 0.3318 | benign | -0.72 | Destabilizing | 0.956 | D | 0.622 | neutral | None | None | None | None | N |
| P/W | 0.928 | likely_pathogenic | 0.9632 | pathogenic | -1.34 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | None | None | N |
| P/Y | 0.8273 | likely_pathogenic | 0.905 | pathogenic | -0.947 | Destabilizing | 0.998 | D | 0.743 | 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.