Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16881 | 50866;50867;50868 | chr2:178611588;178611587;178611586 | chr2:179476315;179476314;179476313 |
| N2AB | 15240 | 45943;45944;45945 | chr2:178611588;178611587;178611586 | chr2:179476315;179476314;179476313 |
| N2A | 14313 | 43162;43163;43164 | chr2:178611588;178611587;178611586 | chr2:179476315;179476314;179476313 |
| N2B | 7816 | 23671;23672;23673 | chr2:178611588;178611587;178611586 | chr2:179476315;179476314;179476313 |
| Novex-1 | 7941 | 24046;24047;24048 | chr2:178611588;178611587;178611586 | chr2:179476315;179476314;179476313 |
| Novex-2 | 8008 | 24247;24248;24249 | chr2:178611588;178611587;178611586 | chr2:179476315;179476314;179476313 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs201302681  |
0.263 | 1.0 | D | 0.627 | 0.429 | 0.355034743287 | gnomAD-2.1.1 | 1.71853E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.48088E-03 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs201302681 |
0.263 | 1.0 | D | 0.627 | 0.429 | 0.355034743287 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 5.83885E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs201302681 |
0.263 | 1.0 | D | 0.627 | 0.429 | 0.355034743287 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/A | rs201302681 |
0.263 | 1.0 | D | 0.627 | 0.429 | 0.355034743287 | gnomAD-4.0.0 | 3.28574E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.16321E-03 | None | 0 | 0 | 0 | 0 | 1.60169E-05 |
| G/R | rs1559780843 |
None | 1.0 | D | 0.793 | 0.532 | 0.72359901507 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs1559780843 |
None | 1.0 | D | 0.793 | 0.532 | 0.72359901507 | gnomAD-4.0.0 | 6.84508E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65777E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.82 | likely_pathogenic | 0.8132 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.551429517 | None | None | I |
| G/C | 0.9223 | likely_pathogenic | 0.9176 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/D | 0.9552 | likely_pathogenic | 0.9423 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/E | 0.976 | likely_pathogenic | 0.9691 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.629829788 | None | None | I |
| G/F | 0.9854 | likely_pathogenic | 0.9854 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/H | 0.9785 | likely_pathogenic | 0.9727 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/I | 0.9831 | likely_pathogenic | 0.9836 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/K | 0.9815 | likely_pathogenic | 0.9716 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/L | 0.978 | likely_pathogenic | 0.9727 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/M | 0.9882 | likely_pathogenic | 0.9848 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/N | 0.9251 | likely_pathogenic | 0.8995 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/P | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Q | 0.9685 | likely_pathogenic | 0.9537 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/R | 0.9536 | likely_pathogenic | 0.9341 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.595934153 | None | None | I |
| G/S | 0.7353 | likely_pathogenic | 0.6723 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| G/T | 0.951 | likely_pathogenic | 0.9398 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/V | 0.9717 | likely_pathogenic | 0.9722 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.720668928 | None | None | I |
| G/W | 0.9847 | likely_pathogenic | 0.9856 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/Y | 0.9779 | likely_pathogenic | 0.9784 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
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.