Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22929 | 69010;69011;69012 | chr2:178577641;178577640;178577639 | chr2:179442368;179442367;179442366 |
| N2AB | 21288 | 64087;64088;64089 | chr2:178577641;178577640;178577639 | chr2:179442368;179442367;179442366 |
| N2A | 20361 | 61306;61307;61308 | chr2:178577641;178577640;178577639 | chr2:179442368;179442367;179442366 |
| N2B | 13864 | 41815;41816;41817 | chr2:178577641;178577640;178577639 | chr2:179442368;179442367;179442366 |
| Novex-1 | 13989 | 42190;42191;42192 | chr2:178577641;178577640;178577639 | chr2:179442368;179442367;179442366 |
| Novex-2 | 14056 | 42391;42392;42393 | chr2:178577641;178577640;178577639 | chr2:179442368;179442367;179442366 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs764365298  |
-0.083 | 0.587 | D | 0.823 | 0.62 | 0.695824657773 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| S/L | rs764365298 |
-0.083 | 0.587 | D | 0.823 | 0.62 | 0.695824657773 | gnomAD-4.0.0 | 3.18796E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72285E-06 | 0 | 0 |
| S/P | rs1277213346 |
-0.383 | 0.994 | D | 0.851 | 0.728 | 0.533950601487 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1277213346 |
-0.383 | 0.994 | D | 0.851 | 0.728 | 0.533950601487 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs1277213346 |
-0.383 | 0.994 | D | 0.851 | 0.728 | 0.533950601487 | gnomAD-4.0.0 | 6.57609E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3856 | ambiguous | 0.4223 | ambiguous | -0.858 | Destabilizing | 0.773 | D | 0.791 | deleterious | D | 0.559611649 | None | None | N |
| S/C | 0.4855 | ambiguous | 0.5297 | ambiguous | -0.874 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| S/D | 0.9891 | likely_pathogenic | 0.9923 | pathogenic | -1.51 | Destabilizing | 0.996 | D | 0.845 | deleterious | None | None | None | None | N |
| S/E | 0.9918 | likely_pathogenic | 0.9941 | pathogenic | -1.403 | Destabilizing | 0.985 | D | 0.852 | deleterious | None | None | None | None | N |
| S/F | 0.9875 | likely_pathogenic | 0.991 | pathogenic | -0.582 | Destabilizing | 0.975 | D | 0.893 | deleterious | None | None | None | None | N |
| S/G | 0.4392 | ambiguous | 0.4388 | ambiguous | -1.191 | Destabilizing | 0.957 | D | 0.817 | deleterious | None | None | None | None | N |
| S/H | 0.9849 | likely_pathogenic | 0.9886 | pathogenic | -1.506 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| S/I | 0.9689 | likely_pathogenic | 0.9799 | pathogenic | -0.043 | Destabilizing | 0.073 | N | 0.782 | deleterious | None | None | None | None | N |
| S/K | 0.9982 | likely_pathogenic | 0.9988 | pathogenic | -0.982 | Destabilizing | 0.957 | D | 0.848 | deleterious | None | None | None | None | N |
| S/L | 0.8756 | likely_pathogenic | 0.902 | pathogenic | -0.043 | Destabilizing | 0.587 | D | 0.823 | deleterious | D | 0.554042242 | None | None | N |
| S/M | 0.9439 | likely_pathogenic | 0.9568 | pathogenic | -0.028 | Destabilizing | 0.993 | D | 0.834 | deleterious | None | None | None | None | N |
| S/N | 0.9574 | likely_pathogenic | 0.9673 | pathogenic | -1.325 | Destabilizing | 0.996 | D | 0.857 | deleterious | None | None | None | None | N |
| S/P | 0.9781 | likely_pathogenic | 0.9867 | pathogenic | -0.281 | Destabilizing | 0.994 | D | 0.851 | deleterious | D | 0.572399986 | None | None | N |
| S/Q | 0.9878 | likely_pathogenic | 0.9911 | pathogenic | -1.291 | Destabilizing | 0.996 | D | 0.854 | deleterious | None | None | None | None | N |
| S/R | 0.9953 | likely_pathogenic | 0.9968 | pathogenic | -1.01 | Destabilizing | 0.996 | D | 0.851 | deleterious | None | None | None | None | N |
| S/T | 0.5273 | ambiguous | 0.5943 | pathogenic | -1.099 | Destabilizing | 0.892 | D | 0.818 | deleterious | D | 0.551253857 | None | None | N |
| S/V | 0.9222 | likely_pathogenic | 0.9497 | pathogenic | -0.281 | Destabilizing | 0.653 | D | 0.834 | deleterious | None | None | None | None | N |
| S/W | 0.986 | likely_pathogenic | 0.9894 | pathogenic | -0.731 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| S/Y | 0.9801 | likely_pathogenic | 0.9862 | pathogenic | -0.405 | Destabilizing | 0.987 | D | 0.891 | 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.