Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14056 | 42391;42392;42393 | chr2:178634615;178634614;178634613 | chr2:179499342;179499341;179499340 |
| N2AB | 12415 | 37468;37469;37470 | chr2:178634615;178634614;178634613 | chr2:179499342;179499341;179499340 |
| N2A | 11488 | 34687;34688;34689 | chr2:178634615;178634614;178634613 | chr2:179499342;179499341;179499340 |
| N2B | 4991 | 15196;15197;15198 | chr2:178634615;178634614;178634613 | chr2:179499342;179499341;179499340 |
| Novex-1 | 5116 | 15571;15572;15573 | chr2:178634615;178634614;178634613 | chr2:179499342;179499341;179499340 |
| Novex-2 | 5183 | 15772;15773;15774 | chr2:178634615;178634614;178634613 | chr2:179499342;179499341;179499340 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1474422218  |
-2.202 | 0.999 | D | 0.6 | 0.633 | 0.451023696535 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1474422218 |
-2.202 | 0.999 | D | 0.6 | 0.633 | 0.451023696535 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs1474422218 |
-2.202 | 0.999 | D | 0.6 | 0.633 | 0.451023696535 | gnomAD-4.0.0 | 2.56439E-06 | None | None | None | None | N | None | 0 | 1.69768E-05 | None | 0 | 2.42718E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9882 | likely_pathogenic | 0.9921 | pathogenic | -3.103 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| F/C | 0.9726 | likely_pathogenic | 0.9834 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.74970575 | None | None | N |
| F/D | 0.9962 | likely_pathogenic | 0.9974 | pathogenic | -3.076 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/E | 0.9967 | likely_pathogenic | 0.998 | pathogenic | -2.95 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/G | 0.9963 | likely_pathogenic | 0.9977 | pathogenic | -3.474 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/H | 0.9893 | likely_pathogenic | 0.9909 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| F/I | 0.798 | likely_pathogenic | 0.8489 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.514571762 | None | None | N |
| F/K | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -1.869 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/L | 0.9881 | likely_pathogenic | 0.9922 | pathogenic | -1.91 | Destabilizing | 0.999 | D | 0.6 | neutral | D | 0.601164807 | None | None | N |
| F/M | 0.941 | likely_pathogenic | 0.9537 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/N | 0.9926 | likely_pathogenic | 0.9943 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/P | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -2.314 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/Q | 0.9968 | likely_pathogenic | 0.9978 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/R | 0.9943 | likely_pathogenic | 0.9961 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/S | 0.99 | likely_pathogenic | 0.9934 | pathogenic | -2.764 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.712133852 | None | None | N |
| F/T | 0.9829 | likely_pathogenic | 0.988 | pathogenic | -2.544 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/V | 0.835 | likely_pathogenic | 0.8846 | pathogenic | -2.314 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.570034138 | None | None | N |
| F/W | 0.9288 | likely_pathogenic | 0.9384 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/Y | 0.7449 | likely_pathogenic | 0.7606 | pathogenic | -1.068 | Destabilizing | 0.999 | D | 0.583 | neutral | D | 0.749351872 | 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.