Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32834 | 98725;98726;98727 | chr2:178539565;178539564;178539563 | chr2:179404292;179404291;179404290 |
| N2AB | 31193 | 93802;93803;93804 | chr2:178539565;178539564;178539563 | chr2:179404292;179404291;179404290 |
| N2A | 30266 | 91021;91022;91023 | chr2:178539565;178539564;178539563 | chr2:179404292;179404291;179404290 |
| N2B | 23769 | 71530;71531;71532 | chr2:178539565;178539564;178539563 | chr2:179404292;179404291;179404290 |
| Novex-1 | 23894 | 71905;71906;71907 | chr2:178539565;178539564;178539563 | chr2:179404292;179404291;179404290 |
| Novex-2 | 23961 | 72106;72107;72108 | chr2:178539565;178539564;178539563 | chr2:179404292;179404291;179404290 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs2154140011  |
None | 0.999 | D | 0.685 | 0.556 | 0.451692371253 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 9.49367E-03 | 0 | 0 | 0 |
| E/A | rs2154140011 |
None | 0.999 | D | 0.685 | 0.556 | 0.451692371253 | gnomAD-4.0.0 | 6.40431E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.7598E-04 | 0 | 0 | 5.6844E-05 |
| E/K | rs199761901 |
-1.651 | 1.0 | N | 0.685 | 0.42 | None | gnomAD-2.1.1 | 1.57071E-04 | None | None | None | None | N | None | 1.48834E-03 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 5.47E-05 | 0 |
| E/K | rs199761901 |
-1.651 | 1.0 | N | 0.685 | 0.42 | None | gnomAD-3.1.2 | 3.48441E-04 | None | None | None | None | N | None | 1.23176E-03 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78469E-04 |
| E/K | rs199761901 |
-1.651 | 1.0 | N | 0.685 | 0.42 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| E/K | rs199761901 |
-1.651 | 1.0 | N | 0.685 | 0.42 | None | gnomAD-4.0.0 | 9.41866E-05 | None | None | None | None | N | None | 1.49349E-03 | 1.66639E-05 | None | 0 | 4.45792E-05 | None | 0 | 0 | 2.62758E-05 | 0 | 9.60307E-05 |
| E/Q | rs199761901 |
-1.479 | 1.0 | N | 0.757 | 0.314 | 0.301789629655 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs199761901 |
-1.479 | 1.0 | N | 0.757 | 0.314 | 0.301789629655 | gnomAD-4.0.0 | 6.84185E-07 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9115 | likely_pathogenic | 0.8915 | pathogenic | -1.275 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | D | 0.530912243 | None | None | N |
| E/C | 0.9904 | likely_pathogenic | 0.9877 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/D | 0.8981 | likely_pathogenic | 0.905 | pathogenic | -1.494 | Destabilizing | 0.999 | D | 0.645 | neutral | N | 0.493805134 | None | None | N |
| E/F | 0.9955 | likely_pathogenic | 0.9954 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| E/G | 0.9336 | likely_pathogenic | 0.9195 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.53268667 | None | None | N |
| E/H | 0.9717 | likely_pathogenic | 0.9697 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/I | 0.9838 | likely_pathogenic | 0.9807 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| E/K | 0.9415 | likely_pathogenic | 0.9326 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.521251005 | None | None | N |
| E/L | 0.9823 | likely_pathogenic | 0.9795 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/M | 0.9746 | likely_pathogenic | 0.9712 | pathogenic | 0.61 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/N | 0.9819 | likely_pathogenic | 0.9812 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| E/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/Q | 0.4316 | ambiguous | 0.3956 | ambiguous | -1.032 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.474495883 | None | None | N |
| E/R | 0.9465 | likely_pathogenic | 0.9378 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| E/S | 0.899 | likely_pathogenic | 0.8888 | pathogenic | -1.982 | Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| E/T | 0.9556 | likely_pathogenic | 0.9486 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/V | 0.9534 | likely_pathogenic | 0.9433 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.51768306 | None | None | N |
| E/W | 0.9972 | likely_pathogenic | 0.9971 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| E/Y | 0.9916 | likely_pathogenic | 0.9914 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.794 | 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.