Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30669 | 92230;92231;92232 | chr2:178549717;178549716;178549715 | chr2:179414444;179414443;179414442 |
| N2AB | 29028 | 87307;87308;87309 | chr2:178549717;178549716;178549715 | chr2:179414444;179414443;179414442 |
| N2A | 28101 | 84526;84527;84528 | chr2:178549717;178549716;178549715 | chr2:179414444;179414443;179414442 |
| N2B | 21604 | 65035;65036;65037 | chr2:178549717;178549716;178549715 | chr2:179414444;179414443;179414442 |
| Novex-1 | 21729 | 65410;65411;65412 | chr2:178549717;178549716;178549715 | chr2:179414444;179414443;179414442 |
| Novex-2 | 21796 | 65611;65612;65613 | chr2:178549717;178549716;178549715 | chr2:179414444;179414443;179414442 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs1469812071  |
None | 0.999 | N | 0.463 | 0.203 | 0.417334834585 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/I | rs1469812071 |
None | 0.999 | N | 0.463 | 0.203 | 0.417334834585 | gnomAD-4.0.0 | 6.57307E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2587 | likely_benign | 0.2692 | benign | -1.268 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | I |
| L/C | 0.4814 | ambiguous | 0.4876 | ambiguous | -0.743 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| L/D | 0.8006 | likely_pathogenic | 0.8253 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| L/E | 0.4318 | ambiguous | 0.4622 | ambiguous | -0.92 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| L/F | 0.1986 | likely_benign | 0.2331 | benign | -0.963 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| L/G | 0.6031 | likely_pathogenic | 0.6184 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| L/H | 0.2779 | likely_benign | 0.3079 | benign | -0.725 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| L/I | 0.0862 | likely_benign | 0.0946 | benign | -0.667 | Destabilizing | 0.999 | D | 0.463 | neutral | N | 0.425069995 | None | None | I |
| L/K | 0.2374 | likely_benign | 0.245 | benign | -0.927 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| L/M | 0.0986 | likely_benign | 0.0988 | benign | -0.512 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| L/N | 0.3913 | ambiguous | 0.4106 | ambiguous | -0.701 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| L/P | 0.327 | likely_benign | 0.3579 | ambiguous | -0.835 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.447445423 | None | None | I |
| L/Q | 0.1466 | likely_benign | 0.1539 | benign | -0.929 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.456718267 | None | None | I |
| L/R | 0.2007 | likely_benign | 0.2104 | benign | -0.261 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.468127339 | None | None | I |
| L/S | 0.3402 | ambiguous | 0.376 | ambiguous | -1.199 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| L/T | 0.223 | likely_benign | 0.224 | benign | -1.138 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| L/V | 0.0782 | likely_benign | 0.0832 | benign | -0.835 | Destabilizing | 0.999 | D | 0.528 | neutral | N | 0.402307779 | None | None | I |
| L/W | 0.4155 | ambiguous | 0.4763 | ambiguous | -1.008 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| L/Y | 0.4656 | ambiguous | 0.4917 | ambiguous | -0.795 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
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.