Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17356 | 52291;52292;52293 | chr2:178609244;178609243;178609242 | chr2:179473971;179473970;179473969 |
| N2AB | 15715 | 47368;47369;47370 | chr2:178609244;178609243;178609242 | chr2:179473971;179473970;179473969 |
| N2A | 14788 | 44587;44588;44589 | chr2:178609244;178609243;178609242 | chr2:179473971;179473970;179473969 |
| N2B | 8291 | 25096;25097;25098 | chr2:178609244;178609243;178609242 | chr2:179473971;179473970;179473969 |
| Novex-1 | 8416 | 25471;25472;25473 | chr2:178609244;178609243;178609242 | chr2:179473971;179473970;179473969 |
| Novex-2 | 8483 | 25672;25673;25674 | chr2:178609244;178609243;178609242 | chr2:179473971;179473970;179473969 |
| 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/D | rs759091835  |
-0.543 | 1.0 | D | 0.814 | 0.7 | 0.517819333224 | gnomAD-2.1.1 | 1.11E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.14E-05 | 2.41429E-04 |
| G/D | rs759091835 |
-0.543 | 1.0 | D | 0.814 | 0.7 | 0.517819333224 | gnomAD-4.0.0 | 7.97961E-06 | None | None | None | None | I | None | 0 | 6.37836E-05 | None | 0 | 0 | None | 0 | 3.72717E-04 | 5.58091E-06 | 1.43464E-05 | 0 |
| G/S | rs1300982560 |
-0.417 | 1.0 | D | 0.793 | 0.762 | 0.495970961353 | gnomAD-4.0.0 | 5.07799E-06 | None | None | None | None | I | None | 6.5368E-05 | 3.18471E-05 | None | 4.82393E-05 | 0 | None | 0 | 0 | 2.79048E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7614 | likely_pathogenic | 0.7525 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.586906453 | None | None | I |
| G/C | 0.8855 | likely_pathogenic | 0.8791 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.60413664 | None | None | I |
| G/D | 0.935 | likely_pathogenic | 0.9436 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.541230738 | None | None | I |
| G/E | 0.967 | likely_pathogenic | 0.9676 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/F | 0.9898 | likely_pathogenic | 0.9877 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/H | 0.9757 | likely_pathogenic | 0.9753 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/I | 0.9873 | likely_pathogenic | 0.9828 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/K | 0.9748 | likely_pathogenic | 0.9737 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/L | 0.9804 | likely_pathogenic | 0.9778 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/M | 0.9877 | likely_pathogenic | 0.9857 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9454 | likely_pathogenic | 0.947 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/Q | 0.9553 | likely_pathogenic | 0.9559 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/R | 0.9316 | likely_pathogenic | 0.9275 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.603127619 | None | None | I |
| G/S | 0.6709 | likely_pathogenic | 0.6534 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.557280459 | None | None | I |
| G/T | 0.9464 | likely_pathogenic | 0.9368 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/V | 0.975 | likely_pathogenic | 0.9671 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.58771367 | None | None | I |
| G/W | 0.9855 | likely_pathogenic | 0.983 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Y | 0.982 | likely_pathogenic | 0.98 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.824 | 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.