Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35212 | 105859;105860;105861 | chr2:178530981;178530980;178530979 | chr2:179395708;179395707;179395706 |
| N2AB | 33571 | 100936;100937;100938 | chr2:178530981;178530980;178530979 | chr2:179395708;179395707;179395706 |
| N2A | 32644 | 98155;98156;98157 | chr2:178530981;178530980;178530979 | chr2:179395708;179395707;179395706 |
| N2B | 26147 | 78664;78665;78666 | chr2:178530981;178530980;178530979 | chr2:179395708;179395707;179395706 |
| Novex-1 | 26272 | 79039;79040;79041 | chr2:178530981;178530980;178530979 | chr2:179395708;179395707;179395706 |
| Novex-2 | 26339 | 79240;79241;79242 | chr2:178530981;178530980;178530979 | chr2:179395708;179395707;179395706 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1462254442  |
None | 1.0 | N | 0.755 | 0.501 | 0.42526943336 | 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 |
| A/T | rs1462254442 |
None | 1.0 | N | 0.755 | 0.501 | 0.42526943336 | gnomAD-4.0.0 | 5.57681E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62787E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7334 | likely_pathogenic | 0.7454 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/D | 0.6809 | likely_pathogenic | 0.6427 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| A/E | 0.5806 | likely_pathogenic | 0.5536 | ambiguous | -1.567 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.513586862 | None | None | N |
| A/F | 0.6593 | likely_pathogenic | 0.6638 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| A/G | 0.309 | likely_benign | 0.2929 | benign | -1.3 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.513146016 | None | None | N |
| A/H | 0.8356 | likely_pathogenic | 0.8241 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| A/I | 0.5374 | ambiguous | 0.531 | ambiguous | -0.135 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/K | 0.8392 | likely_pathogenic | 0.8254 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/L | 0.4675 | ambiguous | 0.4503 | ambiguous | -0.135 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/M | 0.4198 | ambiguous | 0.4108 | ambiguous | -0.124 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/N | 0.6733 | likely_pathogenic | 0.627 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | None | None | N |
| A/P | 0.9827 | likely_pathogenic | 0.9859 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.556849718 | None | None | N |
| A/Q | 0.6841 | likely_pathogenic | 0.6539 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/R | 0.776 | likely_pathogenic | 0.7653 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| A/S | 0.1643 | likely_benign | 0.1407 | benign | -1.527 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.535579774 | None | None | N |
| A/T | 0.1583 | likely_benign | 0.1439 | benign | -1.376 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.49769788 | None | None | N |
| A/V | 0.2289 | likely_benign | 0.2222 | benign | -0.366 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.537966719 | None | None | N |
| A/W | 0.9351 | likely_pathogenic | 0.9407 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/Y | 0.8122 | likely_pathogenic | 0.8092 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.931 | 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.