Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27943 | 84052;84053;84054 | chr2:178562305;178562304;178562303 | chr2:179427032;179427031;179427030 |
| N2AB | 26302 | 79129;79130;79131 | chr2:178562305;178562304;178562303 | chr2:179427032;179427031;179427030 |
| N2A | 25375 | 76348;76349;76350 | chr2:178562305;178562304;178562303 | chr2:179427032;179427031;179427030 |
| N2B | 18878 | 56857;56858;56859 | chr2:178562305;178562304;178562303 | chr2:179427032;179427031;179427030 |
| Novex-1 | 19003 | 57232;57233;57234 | chr2:178562305;178562304;178562303 | chr2:179427032;179427031;179427030 |
| Novex-2 | 19070 | 57433;57434;57435 | chr2:178562305;178562304;178562303 | chr2:179427032;179427031;179427030 |
| 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/E | rs763624309  |
-0.734 | 1.0 | D | 0.881 | 0.672 | 0.790324984343 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52207E-05 | None | 0 | 0 | 8.99573E-07 | 0 | 0 |
| G/R | rs886055236 |
-0.45 | 1.0 | D | 0.885 | 0.634 | 0.813347787064 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs886055236 |
-0.45 | 1.0 | D | 0.885 | 0.634 | 0.813347787064 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs886055236 |
-0.45 | 1.0 | D | 0.885 | 0.634 | 0.813347787064 | gnomAD-4.0.0 | 6.84407E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99577E-07 | 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 | 0.7383 | likely_pathogenic | 0.826 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.548883546 | None | None | I |
| G/C | 0.897 | likely_pathogenic | 0.9356 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/D | 0.9292 | likely_pathogenic | 0.9548 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | I |
| G/E | 0.9477 | likely_pathogenic | 0.9663 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.571760741 | None | None | I |
| G/F | 0.9805 | likely_pathogenic | 0.9862 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/H | 0.9798 | likely_pathogenic | 0.9878 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/I | 0.9698 | likely_pathogenic | 0.9822 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/K | 0.9809 | likely_pathogenic | 0.9873 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| G/L | 0.9677 | likely_pathogenic | 0.9784 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/M | 0.9724 | likely_pathogenic | 0.9841 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/N | 0.9394 | likely_pathogenic | 0.9617 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/Q | 0.9572 | likely_pathogenic | 0.9729 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/R | 0.9611 | likely_pathogenic | 0.9732 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.537616146 | None | None | I |
| G/S | 0.6614 | likely_pathogenic | 0.7828 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/T | 0.9099 | likely_pathogenic | 0.9517 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/V | 0.9401 | likely_pathogenic | 0.964 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.54280716 | None | None | I |
| G/W | 0.973 | likely_pathogenic | 0.9795 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/Y | 0.9627 | likely_pathogenic | 0.974 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.862 | 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.