Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14726 | 44401;44402;44403 | chr2:178630346;178630345;178630344 | chr2:179495073;179495072;179495071 |
| N2AB | 13085 | 39478;39479;39480 | chr2:178630346;178630345;178630344 | chr2:179495073;179495072;179495071 |
| N2A | 12158 | 36697;36698;36699 | chr2:178630346;178630345;178630344 | chr2:179495073;179495072;179495071 |
| N2B | 5661 | 17206;17207;17208 | chr2:178630346;178630345;178630344 | chr2:179495073;179495072;179495071 |
| Novex-1 | 5786 | 17581;17582;17583 | chr2:178630346;178630345;178630344 | chr2:179495073;179495072;179495071 |
| Novex-2 | 5853 | 17782;17783;17784 | chr2:178630346;178630345;178630344 | chr2:179495073;179495072;179495071 |
| 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/S | rs767831350  |
-1.399 | 1.0 | D | 0.758 | 0.462 | 0.243972157842 | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| G/S | rs767831350 |
-1.399 | 1.0 | D | 0.758 | 0.462 | 0.243972157842 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs767831350 |
-1.399 | 1.0 | D | 0.758 | 0.462 | 0.243972157842 | gnomAD-4.0.0 | 6.43738E-06 | None | None | None | None | N | None | 3.39582E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19666E-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 | 0.4483 | ambiguous | 0.4358 | ambiguous | -0.487 | Destabilizing | 0.999 | D | 0.747 | deleterious | D | 0.592616644 | None | None | N |
| G/C | 0.5817 | likely_pathogenic | 0.599 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.637381221 | None | None | N |
| G/D | 0.3407 | ambiguous | 0.3426 | ambiguous | -1.257 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.560669143 | None | None | N |
| G/E | 0.435 | ambiguous | 0.4223 | ambiguous | -1.402 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/F | 0.9162 | likely_pathogenic | 0.9162 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/H | 0.7096 | likely_pathogenic | 0.7347 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/I | 0.8695 | likely_pathogenic | 0.8671 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.624 | likely_pathogenic | 0.6486 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/L | 0.8679 | likely_pathogenic | 0.8619 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/M | 0.8728 | likely_pathogenic | 0.8715 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/N | 0.4427 | ambiguous | 0.4601 | ambiguous | -0.757 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/P | 0.9821 | likely_pathogenic | 0.9851 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.6067 | likely_pathogenic | 0.6215 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/R | 0.5234 | ambiguous | 0.5261 | ambiguous | -0.722 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.593523287 | None | None | N |
| G/S | 0.2554 | likely_benign | 0.2479 | benign | -0.826 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.626750399 | None | None | N |
| G/T | 0.6419 | likely_pathogenic | 0.6544 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/V | 0.7481 | likely_pathogenic | 0.7463 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.636437513 | None | None | N |
| G/W | 0.7826 | likely_pathogenic | 0.7764 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/Y | 0.7753 | likely_pathogenic | 0.7792 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.847 | 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.