Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34417 | 103474;103475;103476 | chr2:178533366;178533365;178533364 | chr2:179398093;179398092;179398091 |
| N2AB | 32776 | 98551;98552;98553 | chr2:178533366;178533365;178533364 | chr2:179398093;179398092;179398091 |
| N2A | 31849 | 95770;95771;95772 | chr2:178533366;178533365;178533364 | chr2:179398093;179398092;179398091 |
| N2B | 25352 | 76279;76280;76281 | chr2:178533366;178533365;178533364 | chr2:179398093;179398092;179398091 |
| Novex-1 | 25477 | 76654;76655;76656 | chr2:178533366;178533365;178533364 | chr2:179398093;179398092;179398091 |
| Novex-2 | 25544 | 76855;76856;76857 | chr2:178533366;178533365;178533364 | chr2:179398093;179398092;179398091 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs1171155874  |
-0.554 | 1.0 | N | 0.737 | 0.589 | 0.490771696789 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| D/A | rs1171155874 |
-0.554 | 1.0 | N | 0.737 | 0.589 | 0.490771696789 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85768E-06 | 0 | 0 |
| D/N | rs1394761197 |
-0.97 | 1.0 | N | 0.699 | 0.431 | 0.383760037723 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs1394761197 |
0.051 | 1.0 | N | 0.722 | 0.62 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/Y | rs1394761197 |
0.051 | 1.0 | N | 0.722 | 0.62 | None | 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 |
| D/Y | rs1394761197 |
0.051 | 1.0 | N | 0.722 | 0.62 | None | gnomAD-4.0.0 | 3.84465E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17786E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.896 | likely_pathogenic | 0.8462 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.492338601 | None | None | N |
| D/C | 0.9877 | likely_pathogenic | 0.9798 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/E | 0.8336 | likely_pathogenic | 0.7698 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.521 | neutral | N | 0.521090324 | None | None | N |
| D/F | 0.9867 | likely_pathogenic | 0.9783 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| D/G | 0.7704 | likely_pathogenic | 0.6928 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.459599149 | None | None | N |
| D/H | 0.9516 | likely_pathogenic | 0.9263 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.498102727 | None | None | N |
| D/I | 0.9888 | likely_pathogenic | 0.9793 | pathogenic | 0.471 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/K | 0.9856 | likely_pathogenic | 0.9785 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/L | 0.9678 | likely_pathogenic | 0.9521 | pathogenic | 0.471 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| D/M | 0.9945 | likely_pathogenic | 0.9906 | pathogenic | 0.964 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/N | 0.6621 | likely_pathogenic | 0.5673 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.508873176 | None | None | N |
| D/P | 0.9891 | likely_pathogenic | 0.981 | pathogenic | 0.13 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| D/Q | 0.9645 | likely_pathogenic | 0.9472 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| D/R | 0.9796 | likely_pathogenic | 0.9694 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/S | 0.7543 | likely_pathogenic | 0.6705 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| D/T | 0.9431 | likely_pathogenic | 0.9145 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/V | 0.9674 | likely_pathogenic | 0.9435 | pathogenic | 0.13 | Stabilizing | 1.0 | D | 0.749 | deleterious | N | 0.489201957 | None | None | N |
| D/W | 0.9956 | likely_pathogenic | 0.993 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/Y | 0.9012 | likely_pathogenic | 0.8494 | pathogenic | 0.321 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.504597187 | 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.