Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30358 | 91297;91298;91299 | chr2:178551828;178551827;178551826 | chr2:179416555;179416554;179416553 |
| N2AB | 28717 | 86374;86375;86376 | chr2:178551828;178551827;178551826 | chr2:179416555;179416554;179416553 |
| N2A | 27790 | 83593;83594;83595 | chr2:178551828;178551827;178551826 | chr2:179416555;179416554;179416553 |
| N2B | 21293 | 64102;64103;64104 | chr2:178551828;178551827;178551826 | chr2:179416555;179416554;179416553 |
| Novex-1 | 21418 | 64477;64478;64479 | chr2:178551828;178551827;178551826 | chr2:179416555;179416554;179416553 |
| Novex-2 | 21485 | 64678;64679;64680 | chr2:178551828;178551827;178551826 | chr2:179416555;179416554;179416553 |
| 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 | rs72648243  |
-2.126 | 1.0 | N | 0.899 | 0.648 | 0.658416286431 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| G/E | rs72648243 |
-2.126 | 1.0 | N | 0.899 | 0.648 | 0.658416286431 | 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 |
| G/E | rs72648243 |
-2.126 | 1.0 | N | 0.899 | 0.648 | 0.658416286431 | gnomAD-4.0.0 | 8.05581E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10186E-05 | 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 | 0.2469 | likely_benign | 0.2244 | benign | -0.768 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.493341516 | None | None | N |
| G/C | 0.3749 | ambiguous | 0.3716 | ambiguous | -1.007 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/D | 0.8292 | likely_pathogenic | 0.8402 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/E | 0.8883 | likely_pathogenic | 0.8826 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.899 | deleterious | N | 0.492834537 | None | None | N |
| G/F | 0.8987 | likely_pathogenic | 0.9036 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/H | 0.7876 | likely_pathogenic | 0.7929 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/I | 0.9073 | likely_pathogenic | 0.9037 | pathogenic | 0.056 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/K | 0.9299 | likely_pathogenic | 0.9192 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/L | 0.8705 | likely_pathogenic | 0.8779 | pathogenic | 0.056 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/M | 0.8853 | likely_pathogenic | 0.8795 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/N | 0.6275 | likely_pathogenic | 0.6761 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/P | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/Q | 0.8158 | likely_pathogenic | 0.8127 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/R | 0.8031 | likely_pathogenic | 0.7889 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.888 | deleterious | N | 0.496442161 | None | None | N |
| G/S | 0.1779 | likely_benign | 0.1714 | benign | -1.493 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/T | 0.6341 | likely_pathogenic | 0.6137 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| G/V | 0.8128 | likely_pathogenic | 0.7997 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.534007024 | None | None | N |
| G/W | 0.8616 | likely_pathogenic | 0.8582 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Y | 0.7849 | likely_pathogenic | 0.789 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.863 | 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.