Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18171 | 54736;54737;54738 | chr2:178604176;178604175;178604174 | chr2:179468903;179468902;179468901 |
| N2AB | 16530 | 49813;49814;49815 | chr2:178604176;178604175;178604174 | chr2:179468903;179468902;179468901 |
| N2A | 15603 | 47032;47033;47034 | chr2:178604176;178604175;178604174 | chr2:179468903;179468902;179468901 |
| N2B | 9106 | 27541;27542;27543 | chr2:178604176;178604175;178604174 | chr2:179468903;179468902;179468901 |
| Novex-1 | 9231 | 27916;27917;27918 | chr2:178604176;178604175;178604174 | chr2:179468903;179468902;179468901 |
| Novex-2 | 9298 | 28117;28118;28119 | chr2:178604176;178604175;178604174 | chr2:179468903;179468902;179468901 |
| 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/R | rs751216891  |
-1.01 | 0.964 | N | 0.773 | 0.209 | 0.494232246516 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/R | rs751216891 |
-1.01 | 0.964 | N | 0.773 | 0.209 | 0.494232246516 | gnomAD-4.0.0 | 3.42444E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50055E-06 | 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 | 0.1423 | likely_benign | 0.1601 | benign | -0.842 | Destabilizing | 0.939 | D | 0.569 | neutral | N | 0.494353935 | None | None | N |
| G/C | 0.2548 | likely_benign | 0.3271 | benign | -1.013 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| G/D | 0.3213 | likely_benign | 0.3226 | benign | -1.627 | Destabilizing | 0.91 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/E | 0.1972 | likely_benign | 0.2 | benign | -1.679 | Destabilizing | 0.17 | N | 0.486 | neutral | N | 0.459219854 | None | None | N |
| G/F | 0.6709 | likely_pathogenic | 0.7229 | pathogenic | -1.203 | Destabilizing | 0.998 | D | 0.857 | deleterious | None | None | None | None | N |
| G/H | 0.5524 | ambiguous | 0.5467 | ambiguous | -1.548 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| G/I | 0.3973 | ambiguous | 0.4727 | ambiguous | -0.438 | Destabilizing | 0.993 | D | 0.876 | deleterious | None | None | None | None | N |
| G/K | 0.4986 | ambiguous | 0.476 | ambiguous | -1.394 | Destabilizing | 0.06 | N | 0.563 | neutral | None | None | None | None | N |
| G/L | 0.4203 | ambiguous | 0.4707 | ambiguous | -0.438 | Destabilizing | 0.986 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.5141 | ambiguous | 0.5702 | pathogenic | -0.333 | Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| G/N | 0.4002 | ambiguous | 0.4164 | ambiguous | -1.087 | Destabilizing | 0.986 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/P | 0.8785 | likely_pathogenic | 0.8899 | pathogenic | -0.532 | Destabilizing | 0.993 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Q | 0.3034 | likely_benign | 0.2892 | benign | -1.284 | Destabilizing | 0.986 | D | 0.763 | deleterious | None | None | None | None | N |
| G/R | 0.3919 | ambiguous | 0.3782 | ambiguous | -1.074 | Destabilizing | 0.964 | D | 0.773 | deleterious | N | 0.477440256 | None | None | N |
| G/S | 0.1263 | likely_benign | 0.1325 | benign | -1.294 | Destabilizing | 0.953 | D | 0.582 | neutral | None | None | None | None | N |
| G/T | 0.2064 | likely_benign | 0.2267 | benign | -1.276 | Destabilizing | 0.986 | D | 0.775 | deleterious | None | None | None | None | N |
| G/V | 0.2554 | likely_benign | 0.3136 | benign | -0.532 | Destabilizing | 0.991 | D | 0.829 | deleterious | N | 0.498279675 | None | None | N |
| G/W | 0.5816 | likely_pathogenic | 0.6055 | pathogenic | -1.593 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| G/Y | 0.5419 | ambiguous | 0.5733 | pathogenic | -1.182 | Destabilizing | 0.998 | 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.