Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21688 | 65287;65288;65289 | chr2:178584489;178584488;178584487 | chr2:179449216;179449215;179449214 |
| N2AB | 20047 | 60364;60365;60366 | chr2:178584489;178584488;178584487 | chr2:179449216;179449215;179449214 |
| N2A | 19120 | 57583;57584;57585 | chr2:178584489;178584488;178584487 | chr2:179449216;179449215;179449214 |
| N2B | 12623 | 38092;38093;38094 | chr2:178584489;178584488;178584487 | chr2:179449216;179449215;179449214 |
| Novex-1 | 12748 | 38467;38468;38469 | chr2:178584489;178584488;178584487 | chr2:179449216;179449215;179449214 |
| Novex-2 | 12815 | 38668;38669;38670 | chr2:178584489;178584488;178584487 | chr2:179449216;179449215;179449214 |
| 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 | rs372661193  |
-0.154 | 1.0 | N | 0.792 | 0.53 | 0.666956295248 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| G/R | rs372661193 |
-0.154 | 1.0 | N | 0.792 | 0.53 | 0.666956295248 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs372661193 |
-0.154 | 1.0 | N | 0.792 | 0.53 | 0.666956295248 | gnomAD-4.0.0 | 4.10652E-06 | None | None | None | None | I | None | 0 | 1.34246E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7747 | likely_pathogenic | 0.8019 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.508401713 | None | None | I |
| G/C | 0.8338 | likely_pathogenic | 0.8593 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/D | 0.7276 | likely_pathogenic | 0.8017 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/E | 0.8591 | likely_pathogenic | 0.9024 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.515745547 | None | None | I |
| G/F | 0.9755 | likely_pathogenic | 0.9802 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/H | 0.9156 | likely_pathogenic | 0.9323 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/I | 0.9658 | likely_pathogenic | 0.9769 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.9151 | likely_pathogenic | 0.9346 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/L | 0.9543 | likely_pathogenic | 0.9616 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/M | 0.9681 | likely_pathogenic | 0.9729 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/N | 0.7753 | likely_pathogenic | 0.8193 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/P | 0.9939 | likely_pathogenic | 0.9961 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/Q | 0.8724 | likely_pathogenic | 0.898 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/R | 0.851 | likely_pathogenic | 0.8831 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.518303214 | None | None | I |
| G/S | 0.5209 | ambiguous | 0.5819 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/T | 0.888 | likely_pathogenic | 0.9177 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/V | 0.9471 | likely_pathogenic | 0.9633 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.550739516 | None | None | I |
| G/W | 0.9655 | likely_pathogenic | 0.9747 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.551246495 | None | None | I |
| G/Y | 0.948 | likely_pathogenic | 0.9589 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.77 | 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.